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703 Cards in this Set
- Front
- Back
|
Oxidative phosphorylation poisoning: inc oxygen consumption with? |
Salicylate Thermogenin 2,4-dinitrophenol |
|
|
Fabry deficient in? |
Alpha-galactosidase A |
|
|
Fabry accumulation? |
Ceramide Trihexoside |
|
|
Fabry triad |
HAP Hypohidrosis Angiokeratomas Periph. Neuropathy of hands & feet |
|
|
Pyruvate carboxylase requires? |
Biotin ATP |
|
|
Pyruvate carboxylase activated by? |
Acetyle coA |
|
|
PEP carboxykinase req? |
GTP |
|
|
F-1,6-bisphosphatase regulation? |
Active by citrate Inhibit by fructose-2,6-bisphosphate |
|
|
Location of G-6-phosphatase? |
RER |
|
|
Products of G6PD? |
Co2 2 NADPH Ribulose |
|
|
Location of G6PD? |
Cytoplasm |
|
|
2nd enzyme of HMP shunt? Req? |
Phosphopentose isomerase & transketolase B1 |
|
|
Hypoglycaemia in fructose intolerance? |
Dec phosphate due to accumulated f-6-p =>dec gluconeogenesis & glycogenolysis |
|
|
Urine dipstick in fructose intolerance? |
Neg |
|
|
Inc risk of which infection in classic galactosemia? |
Sepsis due to E coli |
|
|
Enzyme def in classic galactosemia? |
Uridyltransferase |
|
|
Aldo reductase req? |
NADPH |
|
|
Sorbitol dehydrogenase req? |
NAD+ |
|
|
Most basic AA? |
Arginine |
|
|
AA Req in times of growth? |
Arginine & histidine |
|
|
AA Present in histone? |
Arginine & lysine |
|
|
Inc NH3 effect on ATP production? |
Inhibition of TCA due to dec a-ketoglutarate |
|
|
Failure to regulate body temperature & resp? Dx? |
NAG Synthase def |
|
|
Eczema+fair skin+musty body odour.dx? |
Pku |
|
|
Aspartame contains? |
Phenylalanine |
|
|
Time of Screening for PKU? |
At day 2-3 |
|
|
Rx of PKU? |
Dec phenylalanine & inc tyrosine BH4 supplements |
|
|
Maple syrup urine enzyme def? |
Alpha-ketoacid dehydrogenase |
|
|
Lab finding in maple syrup dz? |
Inc ketoacid of leucine |
|
|
Branched AA? |
Isoleucine Leucine Valine (I Love Valiants) |
|
|
Arsenic dec ATP production in glycolysis? How? |
By inhibiting 1-phosphoglycerate kinase 2- lipoic acid |
|
|
TTP(thiamine) carries? |
Aldehyde |
|
|
Type of AA found in proteins? |
L-AA |
|
|
AA formed at end of NH3 metabolism in liver before urea cycle? |
Glutamate |
|
|
AA used to transport NH3 towards kidney for excretion? |
Glutamine |
|
|
Glutamate =>NH3 enzyme? |
Glutamate dehydrogenase |
|
|
Last nitrogen of urea comes from? |
Aspartate |
|
|
Glutaminase in kidney activated by? |
Acidosis |
|
|
Hyper ammonemia results in excess? |
NH4+ |
|
|
Hyper ammonemia depletes? |
æ-ketoglutarate |
|
|
Process inhibited by inc NH3? |
TCA |
|
|
Rx of inc NH3? |
Dec protein in diet Lactulose Rifaximin Benzoate/phenylbutyrate |
|
|
Glucogenic AA? |
HVM histidine Valine Methionine |
|
|
Ketogenic AA? |
Leucine Lysine |
|
|
Both ketogenic & glucogenic? |
PITT Phenylalanine Isoleucine Threonine Tryptophan |
|
|
Acidic AA? |
Negatively charged Aspartate Glutamate |
|
|
Basic AA? |
Positively charged Histidine Arginine Lysine |
|
|
Most basic AA? |
Arginine |
|
|
Glucogenic AA yield? |
Pyruvate Intermediates of TCA |
|
|
Carbamoyl synthetase 1 cofactor? |
N-acetylglutamate |
|
|
AA used for transport of NH3 to liver? |
Alanine |
|
|
Enzyme deficiency in urea cycle related to inc orotic acid production? |
Ornithine transcarbamoylase |
|
|
Malignant PKU? |
Dec BH4 |
|
|
Phenyl ketones? |
P-LAP Phenyl lactate Phenyl acetate Phenyl pyruvate |
|
|
Phenyl ketones? |
P-LAP Phenyl lactate Phenyl acetate Phenyl pyruvate |
|
|
PKU screeing? |
2-3 days after birth |
|
|
Maternal PKU findings? |
Growth retardation Microcephaly Intellectual disabilities Congenital heart defects |
|
|
Phenyl ketones? |
P-LAP Phenyl lactate Phenyl acetate Phenyl pyruvate |
|
|
PKU screeing? |
2-3 days after birth |
|
|
Maternal PKU findings? |
Growth retardation Microcephaly Intellectual disabilities Congenital heart defects |
|
|
Rx of PKU? |
Dec PA Inc tyrosine BH4 no aspartame |
|
|
Aspartame contains? |
PA |
|
|
Enzyme deficient in maple syrup urine dz? |
æ-ketoacid dehydrogenase |
|
|
Rx of Cystayhionine synthase def? |
Inc cysteine Dec methionine Inc B12,folate |
|
|
Rx for Dec affinity of B6 with cystathionine syn? |
Inc B6 & cystiene |
|
|
Phenyl ketones? |
P-LAP Phenyl lactate Phenyl acetate Phenyl pyruvate |
|
|
PKU screeing? |
2-3 days after birth |
|
|
Maternal PKU findings? |
Growth retardation Microcephaly Intellectual disabilities Congenital heart defects |
|
|
Rx of PKU? |
Dec PA Inc tyrosine BH4 no aspartame |
|
|
Aspartame contains? |
PA |
|
|
Enzyme deficient in maple syrup urine dz? |
æ-ketoacid dehydrogenase |
|
|
Rx of Cystayhionine synthase def? |
Inc cysteine Dec methionine Inc B12,folate |
|
|
Rx for Dec affinity of B6 with cystathionine syn? |
Inc B6 & cystiene |
|
|
Rx of deficiency of homocysteine methyltransferase? |
Inc methionine |
|
|
Black urine in? |
Alkaptonuria |
|
|
Black urine in? |
Alkaptonuria |
|
|
Urine smells of rotten eggs? |
Cystinuria |
|
|
Black urine in? |
Alkaptonuria |
|
|
Urine smells of rotten eggs? |
Cystinuria |
|
|
Pathophys of cystinuria? |
Defective reabsorption of COLA in kidney & intestine Cystiene Ornithine Lysine Arginine |
|
|
Black urine in? |
Alkaptonuria |
|
|
Urine smells of rotten eggs? |
Cystinuria |
|
|
Pathophys of cystinuria? |
Defective reabsorption of COLA in kidney & intestine Cystiene Ornithine Lysine Arginine |
|
|
Diagnostic test of cystinuria? |
Urinary cyanide-nitroprusside test |
|
|
Malate aspartate shuttle in? |
Heart & liver |
|
|
Black urine in? |
Alkaptonuria |
|
|
Urine smells of rotten eggs? |
Cystinuria |
|
|
Pathophys of cystinuria? |
Defective reabsorption of COLA in kidney & intestine Cystiene Ornithine Lysine Arginine |
|
|
Diagnostic test of cystinuria? |
Urinary cyanide-nitroprusside test |
|
|
Malate aspartate shuttle in? |
Heart & liver |
|
|
Malate aspartate shuttle produces .....ATP? |
32 |
|
|
Black urine in? |
Alkaptonuria |
|
|
Urine smells of rotten eggs? |
Cystinuria |
|
|
Pathophys of cystinuria? |
Defective reabsorption of COLA in kidney & intestine Cystiene Ornithine Lysine Arginine |
|
|
Diagnostic test of cystinuria? |
Urinary cyanide-nitroprusside test |
|
|
Malate aspartate shuttle in? |
Heart & liver |
|
|
Malate aspartate shuttle produces .....ATP? |
32 |
|
|
G-3-P shuttle in? |
Brain & muscle |
|
|
Black urine in? |
Alkaptonuria |
|
|
Urine smells of rotten eggs? |
Cystinuria |
|
|
Pathophys of cystinuria? |
Defective reabsorption of COLA in kidney & intestine Cystiene Ornithine Lysine Arginine |
|
|
Diagnostic test of cystinuria? |
Urinary cyanide-nitroprusside test |
|
|
Malate aspartate shuttle in? |
Heart & liver |
|
|
Malate aspartate shuttle produces .....ATP? |
32 |
|
|
G-3-P shuttle in? |
Brain & muscle |
|
|
G-3-P shuttle produces .....ATP? |
30 |
|
|
Acyl group carriers? |
CoA & lipoamide |
|
|
Co2 carrier? |
Biotin |
|
|
Co2 carrier? |
Biotin |
|
|
1 carbon unit carrier? |
THF |
|
|
Co2 carrier? |
Biotin |
|
|
1 carbon unit carrier? |
THF |
|
|
CH3 carrier? |
SAM |
|
|
Co2 carrier? |
Biotin |
|
|
1 carbon unit carrier? |
THF |
|
|
CH3 carrier? |
SAM |
|
|
Aldehyde carrier? |
TPP |
|
|
PDH activated by? |
Inc NAD/NADH ratio Inc ADP Inc Ca |
|
|
Lipoic acid inhibited by? |
Arsenic |
|
|
TLC F N enzymes? |
1- PDH 2- æ-ketoglutarate dehydrogenase 3- branches chain æ-ketoacid dehydrogenase |
|
|
Co2 carrier? |
Biotin |
|
|
1 carbon unit carrier? |
THF |
|
|
CH3 carrier? |
SAM |
|
|
Aldehyde carrier? |
TPP |
|
|
PDH activated by? |
Inc NAD/NADH ratio Inc ADP Inc Ca |
|
|
Lipoic acid inhibited by? |
Arsenic |
|
|
TLC F N enzymes? |
1- PDH 2- æ-ketoglutarate dehydrogenase 3- branches chain æ-ketoacid dehydrogenase |
|
|
PDH deficiency symptoms? |
Inc Alanine Inc Lactate Neurologic deficits |
|
|
Co2 carrier? |
Biotin |
|
|
1 carbon unit carrier? |
THF |
|
|
CH3 carrier? |
SAM |
|
|
Aldehyde carrier? |
TPP |
|
|
PDH activated by? |
Inc NAD/NADH ratio Inc ADP Inc Ca |
|
|
Lipoic acid inhibited by? |
Arsenic |
|
|
TLC F N enzymes? |
1- PDH 2- æ-ketoglutarate dehydrogenase 3- branches chain æ-ketoacid dehydrogenase |
|
|
PDH deficiency symptoms? |
Inc Alanine Inc Lactate Neurologic deficits |
|
|
Rx PDH? |
Inc ketogenic AA i-e lysine & leucine |
|
|
Enzyme of TCA cycle activated by ADP? |
Isocitrate dehydrogenase |
|
|
Co2 carrier? |
Biotin |
|
|
During TCA GTP generated during......=>.......? |
Succinyl coA=>succinate |
|
|
1 carbon unit carrier? |
THF |
|
|
CH3 carrier? |
SAM |
|
|
Aldehyde carrier? |
TPP |
|
|
PDH activated by? |
Inc NAD/NADH ratio Inc ADP Inc Ca |
|
|
Lipoic acid inhibited by? |
Arsenic |
|
|
TLC F N enzymes? |
1- PDH 2- æ-ketoglutarate dehydrogenase 3- branches chain æ-ketoacid dehydrogenase |
|
|
PDH deficiency symptoms? |
Inc Alanine Inc Lactate Neurologic deficits |
|
|
Rx PDH? |
Inc ketogenic AA i-e lysine & leucine |
|
|
Enzyme of TCA cycle activated by ADP? |
Isocitrate dehydrogenase |
|
|
Co2 carrier? |
Biotin |
|
|
During TCA GTP generated during......=>.......? |
Succinyl coA=>succinate |
|
|
Products of TCA cycle? |
3 NADH 1 FADH2 2 CO2 1 GTP |
|
|
1 carbon unit carrier? |
THF |
|
|
CH3 carrier? |
SAM |
|
|
Aldehyde carrier? |
TPP |
|
|
PDH activated by? |
Inc NAD/NADH ratio Inc ADP Inc Ca |
|
|
Lipoic acid inhibited by? |
Arsenic |
|
|
TLC F N enzymes? |
1- PDH 2- æ-ketoglutarate dehydrogenase 3- branches chain æ-ketoacid dehydrogenase |
|
|
PDH deficiency symptoms? |
Inc Alanine Inc Lactate Neurologic deficits |
|
|
Rx PDH? |
Inc ketogenic AA i-e lysine & leucine |
|
|
Enzyme of TCA cycle activated by ADP? |
Isocitrate dehydrogenase |
|
|
Co2 carrier? |
Biotin |
|
|
During TCA GTP generated during......=>.......? |
Succinyl coA=>succinate |
|
|
Products of TCA cycle? |
3 NADH 1 FADH2 2 CO2 1 GTP |
|
|
Total ATP generated per acetyl coA molecule in TCA? |
10 |
|
|
NADH electrons enter mitochondria via? |
G-3-P shuttle Malate-Aspartate shuttle |
|
|
Complexes of electron transport chain inhibited by? |
1=> rotenone 3=> antimycin A 4=> CO CN 5=> oligomycin |
|
|
1 carbon unit carrier? |
THF |
|
|
CH3 carrier? |
SAM |
|
|
Aldehyde carrier? |
TPP |
|
|
PDH activated by? |
Inc NAD/NADH ratio Inc ADP Inc Ca |
|
|
Lipoic acid inhibited by? |
Arsenic |
|
|
TLC F N enzymes? |
1- PDH 2- æ-ketoglutarate dehydrogenase 3- branches chain æ-ketoacid dehydrogenase |
|
|
PDH deficiency symptoms? |
Inc Alanine Inc Lactate Neurologic deficits |
|
|
Rx PDH? |
Inc ketogenic AA i-e lysine & leucine |
|
|
Enzyme of TCA cycle activated by ADP? |
Isocitrate dehydrogenase |
|
|
Co2 carrier? |
Biotin |
|
|
During TCA GTP generated during......=>.......? |
Succinyl coA=>succinate |
|
|
Products of TCA cycle? |
3 NADH 1 FADH2 2 CO2 1 GTP |
|
|
Total ATP generated per acetyl coA molecule in TCA? |
10 |
|
|
NADH electrons enter mitochondria via? |
G-3-P shuttle Malate-Aspartate shuttle |
|
|
Complexes of electron transport chain inhibited by? |
1=> rotenone 3=> antimycin A 4=> CO CN 5=> oligomycin |
|
|
Complex 5 is? |
Mitochondrial ATP synthase |
|
|
1 carbon unit carrier? |
THF |
|
|
CH3 carrier? |
SAM |
|
|
Aldehyde carrier? |
TPP |
|
|
PDH activated by? |
Inc NAD/NADH ratio Inc ADP Inc Ca |
|
|
Lipoic acid inhibited by? |
Arsenic |
|
|
TLC F N enzymes? |
1- PDH 2- æ-ketoglutarate dehydrogenase 3- branches chain æ-ketoacid dehydrogenase |
|
|
PDH deficiency symptoms? |
Inc Alanine Inc Lactate Neurologic deficits |
|
|
Rx PDH? |
Inc ketogenic AA i-e lysine & leucine |
|
|
Enzyme of TCA cycle activated by ADP? |
Isocitrate dehydrogenase |
|
|
Co2 carrier? |
Biotin |
|
|
During TCA GTP generated during......=>.......? |
Succinyl coA=>succinate |
|
|
Products of TCA cycle? |
3 NADH 1 FADH2 2 CO2 1 GTP |
|
|
Total ATP generated per acetyl coA molecule in TCA? |
10 |
|
|
NADH electrons enter mitochondria via? |
G-3-P shuttle Malate-Aspartate shuttle |
|
|
Complexes of electron transport chain inhibited by? |
1=> rotenone 3=> antimycin A 4=> CO CN 5=> oligomycin |
|
|
Complex 5 is? |
Mitochondrial ATP synthase |
|
|
Uncoupling agents? |
2,4-dinitrophenol Aspirin Alcohol Thermogenin |
|
|
Gluconeogenesis raw material? |
Lactate Glycerol Glucogenic AA |
|
|
Effects of essential fructosuria dec by? |
Hexokinase |
|
|
Glutathione reductase & peroxidase cofactor? |
Selenium |
|
|
1 carbon unit carrier? |
THF |
|
|
Enzyme deficient in essential fructosuria? |
Fructokinase |
|
|
CH3 carrier? |
SAM |
|
|
Aldehyde carrier? |
TPP |
|
|
PDH activated by? |
Inc NAD/NADH ratio Inc ADP Inc Ca |
|
|
Lipoic acid inhibited by? |
Arsenic |
|
|
TLC F N enzymes? |
1- PDH 2- æ-ketoglutarate dehydrogenase 3- branches chain æ-ketoacid dehydrogenase |
|
|
PDH deficiency symptoms? |
Inc Alanine Inc Lactate Neurologic deficits |
|
|
Rx PDH? |
Inc ketogenic AA i-e lysine & leucine |
|
|
Enzyme of TCA cycle activated by ADP? |
Isocitrate dehydrogenase |
|
|
Co2 carrier? |
Biotin |
|
|
During TCA GTP generated during......=>.......? |
Succinyl coA=>succinate |
|
|
Products of TCA cycle? |
3 NADH 1 FADH2 2 CO2 1 GTP |
|
|
Total ATP generated per acetyl coA molecule in TCA? |
10 |
|
|
NADH electrons enter mitochondria via? |
G-3-P shuttle Malate-Aspartate shuttle |
|
|
Complexes of electron transport chain inhibited by? |
1=> rotenone 3=> antimycin A 4=> CO CN 5=> oligomycin |
|
|
Complex 5 is? |
Mitochondrial ATP synthase |
|
|
Uncoupling agents? |
2,4-dinitrophenol Aspirin Alcohol Thermogenin |
|
|
Gluconeogenesis raw material? |
Lactate Glycerol Glucogenic AA |
|
|
Effects of essential fructosuria dec by? |
Hexokinase |
|
|
Glutathione reductase & peroxidase cofactor? |
Selenium |
|
|
1 carbon unit carrier? |
THF |
|
|
Enzyme deficient in essential fructosuria? |
Fructokinase |
|
|
Enzyme deficient in fructose intolerance? |
Aldolase B |
|
|
CH3 carrier? |
SAM |
|
|
Aldehyde carrier? |
TPP |
|
|
PDH activated by? |
Inc NAD/NADH ratio Inc ADP Inc Ca |
|
|
Lipoic acid inhibited by? |
Arsenic |
|
|
TLC F N enzymes? |
1- PDH 2- æ-ketoglutarate dehydrogenase 3- branches chain æ-ketoacid dehydrogenase |
|
|
PDH deficiency symptoms? |
Inc Alanine Inc Lactate Neurologic deficits |
|
|
Rx PDH? |
Inc ketogenic AA i-e lysine & leucine |
|
|
Enzyme of TCA cycle activated by ADP? |
Isocitrate dehydrogenase |
|
|
Co2 carrier? |
Biotin |
|
|
During TCA GTP generated during......=>.......? |
Succinyl coA=>succinate |
|
|
Products of TCA cycle? |
3 NADH 1 FADH2 2 CO2 1 GTP |
|
|
Total ATP generated per acetyl coA molecule in TCA? |
10 |
|
|
NADH electrons enter mitochondria via? |
G-3-P shuttle Malate-Aspartate shuttle |
|
|
Complexes of electron transport chain inhibited by? |
1=> rotenone 3=> antimycin A 4=> CO CN 5=> oligomycin |
|
|
Complex 5 is? |
Mitochondrial ATP synthase |
|
|
Uncoupling agents? |
2,4-dinitrophenol Aspirin Alcohol Thermogenin |
|
|
Gluconeogenesis raw material? |
Lactate Glycerol Glucogenic AA |
|
|
Effects of essential fructosuria dec by? |
Hexokinase |
|
|
Glutathione reductase & peroxidase cofactor? |
Selenium |
|
|
1 carbon unit carrier? |
THF |
|
|
Enzyme deficient in essential fructosuria? |
Fructokinase |
|
|
Enzyme deficient in fructose intolerance? |
Aldolase B |
|
|
Symptoms after honey,fruit,juice in? |
Fructose intolerance |
|
|
CH3 carrier? |
SAM |
|
|
Aldehyde carrier? |
TPP |
|
|
PDH activated by? |
Inc NAD/NADH ratio Inc ADP Inc Ca |
|
|
Lipoic acid inhibited by? |
Arsenic |
|
|
TLC F N enzymes? |
1- PDH 2- æ-ketoglutarate dehydrogenase 3- branches chain æ-ketoacid dehydrogenase |
|
|
PDH deficiency symptoms? |
Inc Alanine Inc Lactate Neurologic deficits |
|
|
Rx PDH? |
Inc ketogenic AA i-e lysine & leucine |
|
|
Enzyme of TCA cycle activated by ADP? |
Isocitrate dehydrogenase |
|
|
Co2 carrier? |
Biotin |
|
|
During TCA GTP generated during......=>.......? |
Succinyl coA=>succinate |
|
|
Products of TCA cycle? |
3 NADH 1 FADH2 2 CO2 1 GTP |
|
|
Total ATP generated per acetyl coA molecule in TCA? |
10 |
|
|
NADH electrons enter mitochondria via? |
G-3-P shuttle Malate-Aspartate shuttle |
|
|
Complexes of electron transport chain inhibited by? |
1=> rotenone 3=> antimycin A 4=> CO CN 5=> oligomycin |
|
|
Complex 5 is? |
Mitochondrial ATP synthase |
|
|
Uncoupling agents? |
2,4-dinitrophenol Aspirin Alcohol Thermogenin |
|
|
Gluconeogenesis raw material? |
Lactate Glycerol Glucogenic AA |
|
|
Effects of essential fructosuria dec by? |
Hexokinase |
|
|
Glutathione reductase & peroxidase cofactor? |
Selenium |
|
|
1 carbon unit carrier? |
THF |
|
|
Enzyme deficient in essential fructosuria? |
Fructokinase |
|
|
Enzyme deficient in fructose intolerance? |
Aldolase B |
|
|
Symptoms after honey,fruit,juice in? |
Fructose intolerance |
|
|
Symptoms after milk? |
Galactokinase deficiency |
|
|
CH3 carrier? |
SAM |
|
|
Gluconeogenesis raw material? |
Lactate Alanine Glycerol Proprionyl co-A |
|
|
PDH activated by? |
Inc NAD/NADH ratio Inc ADP Inc Ca |
|
|
Lipoic acid inhibited by? |
Arsenic |
|
|
TLC F N enzymes? |
1- PDH 2- æ-ketoglutarate dehydrogenase 3- branches chain æ-ketoacid dehydrogenase |
|
|
PDH deficiency symptoms? |
Inc Alanine Inc Lactate Neurologic deficits |
|
|
Rx PDH? |
Inc ketogenic AA i-e lysine & leucine |
|
|
Enzyme of TCA cycle activated by ADP? |
Isocitrate dehydrogenase |
|
|
Phosphate depletion associated with? |
Fructose intolerance Classic galactosemia |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Tissues with aldose reductase >sorbitol dehydrogenase? |
Lens |
|
|
Age dependent decline in lactase cause? |
Absence of lactase-persistent gene |
|
|
Glycogenolysis releases? |
Glucose-1-phosphate |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Tissues with aldose reductase >sorbitol dehydrogenase? |
Lens |
|
|
Age dependent decline in lactase cause? |
Absence of lactase-persistent gene |
|
|
Glycogenolysis releases? |
Glucose-1-phosphate |
|
|
Debranching enzyme for first 3 residues? |
4-æ-D-glucanotransferase |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Tissues with aldose reductase >sorbitol dehydrogenase? |
Lens |
|
|
Age dependent decline in lactase cause? |
Absence of lactase-persistent gene |
|
|
Glycogenolysis releases? |
Glucose-1-phosphate |
|
|
Debranching enzyme for first 3 residues? |
4-æ-D-glucanotransferase |
|
|
Debranching enzyme for last residue? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
G-1-P => ........ for being used in glycogen synthesis?enzyme? |
UDP-glucose UDP-glucos pyrophosphorylase |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Tissues with aldose reductase >sorbitol dehydrogenase? |
Lens |
|
|
Age dependent decline in lactase cause? |
Absence of lactase-persistent gene |
|
|
Glycogenolysis releases? |
Glucose-1-phosphate |
|
|
Debranching enzyme for first 3 residues? |
4-æ-D-glucanotransferase |
|
|
Debranching enzyme for last residue? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
G-1-P => ........ for being used in glycogen synthesis?enzyme? |
UDP-glucose UDP-glucos pyrophosphorylase |
|
|
Enzyme responsible for glycogen breakdown in lysosomes? |
æ-1,4- glucosidase |
|
|
Enzyme deficient in von Gierke? |
Glucose-6-phosphatase |
|
|
Enzyme deficient in pompe? |
æ-1,4-glucosidase |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Tissues with aldose reductase >sorbitol dehydrogenase? |
Lens |
|
|
Age dependent decline in lactase cause? |
Absence of lactase-persistent gene |
|
|
Glycogenolysis releases? |
Glucose-1-phosphate |
|
|
Debranching enzyme for first 3 residues? |
4-æ-D-glucanotransferase |
|
|
Debranching enzyme for last residue? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
G-1-P => ........ for being used in glycogen synthesis?enzyme? |
UDP-glucose UDP-glucos pyrophosphorylase |
|
|
Enzyme responsible for glycogen breakdown in lysosomes? |
æ-1,4- glucosidase |
|
|
Enzyme deficient in von Gierke? |
Glucose-6-phosphatase |
|
|
Enzyme deficient in pompe? |
æ-1,4-glucosidase |
|
|
Enzyme deficient in cori? |
æ-1,6-glucosidase |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Tissues with aldose reductase >sorbitol dehydrogenase? |
Lens |
|
|
Age dependent decline in lactase cause? |
Absence of lactase-persistent gene |
|
|
Glycogenolysis releases? |
Glucose-1-phosphate |
|
|
Debranching enzyme for first 3 residues? |
4-æ-D-glucanotransferase |
|
|
Debranching enzyme for last residue? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
G-1-P => ........ for being used in glycogen synthesis?enzyme? |
UDP-glucose UDP-glucos pyrophosphorylase |
|
|
Enzyme responsible for glycogen breakdown in lysosomes? |
æ-1,4- glucosidase |
|
|
Enzyme deficient in von Gierke? |
Glucose-6-phosphatase |
|
|
Enzyme deficient in pompe? |
æ-1,4-glucosidase |
|
|
Enzyme deficient in cori? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in mcArdle? |
Myophosphorylase |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Tissues with aldose reductase >sorbitol dehydrogenase? |
Lens |
|
|
Age dependent decline in lactase cause? |
Absence of lactase-persistent gene |
|
|
Glycogenolysis releases? |
Glucose-1-phosphate |
|
|
Debranching enzyme for first 3 residues? |
4-æ-D-glucanotransferase |
|
|
Debranching enzyme for last residue? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
G-1-P => ........ for being used in glycogen synthesis?enzyme? |
UDP-glucose UDP-glucos pyrophosphorylase |
|
|
Enzyme responsible for glycogen breakdown in lysosomes? |
æ-1,4- glucosidase |
|
|
Enzyme deficient in von Gierke? |
Glucose-6-phosphatase |
|
|
Enzyme deficient in pompe? |
æ-1,4-glucosidase |
|
|
Enzyme deficient in cori? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in mcArdle? |
Myophosphorylase |
|
|
Von gierke findings? |
Inc size of liver & kidney Inc lactic acid Inc TGs Inc uric acid Severe fasting hypoglycaemic |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Tissues with aldose reductase >sorbitol dehydrogenase? |
Lens |
|
|
Age dependent decline in lactase cause? |
Absence of lactase-persistent gene |
|
|
Glycogenolysis releases? |
Glucose-1-phosphate |
|
|
Debranching enzyme for first 3 residues? |
4-æ-D-glucanotransferase |
|
|
Debranching enzyme for last residue? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
G-1-P => ........ for being used in glycogen synthesis?enzyme? |
UDP-glucose UDP-glucos pyrophosphorylase |
|
|
Enzyme responsible for glycogen breakdown in lysosomes? |
æ-1,4- glucosidase |
|
|
Enzyme deficient in von Gierke? |
Glucose-6-phosphatase |
|
|
Enzyme deficient in pompe? |
æ-1,4-glucosidase |
|
|
Enzyme deficient in cori? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in mcArdle? |
Myophosphorylase |
|
|
Von gierke findings? |
Inc size of liver & kidney Inc lactic acid Inc TGs Inc uric acid Severe fasting hypoglycaemic |
|
|
Pompe findings? |
Cardiomegaly HCOM |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Tissues with aldose reductase >sorbitol dehydrogenase? |
Lens |
|
|
Age dependent decline in lactase cause? |
Absence of lactase-persistent gene |
|
|
Glycogenolysis releases? |
Glucose-1-phosphate |
|
|
Debranching enzyme for first 3 residues? |
4-æ-D-glucanotransferase |
|
|
Debranching enzyme for last residue? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
G-1-P => ........ for being used in glycogen synthesis?enzyme? |
UDP-glucose UDP-glucos pyrophosphorylase |
|
|
Enzyme responsible for glycogen breakdown in lysosomes? |
æ-1,4- glucosidase |
|
|
Enzyme deficient in von Gierke? |
Glucose-6-phosphatase |
|
|
Enzyme deficient in pompe? |
æ-1,4-glucosidase |
|
|
Enzyme deficient in cori? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in mcArdle? |
Myophosphorylase |
|
|
Von gierke findings? |
Inc size of liver & kidney Inc lactic acid Inc TGs Inc uric acid Severe fasting hypoglycaemic |
|
|
Pompe findings? |
Cardiomegaly HCOM |
|
|
McArdle findings? |
Inc muscle breakdown Myoglobinuria Painful muscle cramps Arrhythmia from electrolyte imbalance |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Tissues with aldose reductase >sorbitol dehydrogenase? |
Lens |
|
|
Age dependent decline in lactase cause? |
Absence of lactase-persistent gene |
|
|
Glycogenolysis releases? |
Glucose-1-phosphate |
|
|
Debranching enzyme for first 3 residues? |
4-æ-D-glucanotransferase |
|
|
Debranching enzyme for last residue? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
G-1-P => ........ for being used in glycogen synthesis?enzyme? |
UDP-glucose UDP-glucos pyrophosphorylase |
|
|
Enzyme responsible for glycogen breakdown in lysosomes? |
æ-1,4- glucosidase |
|
|
Enzyme deficient in von Gierke? |
Glucose-6-phosphatase |
|
|
Enzyme deficient in pompe? |
æ-1,4-glucosidase |
|
|
Enzyme deficient in cori? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in mcArdle? |
Myophosphorylase |
|
|
Von gierke findings? |
Inc size of liver & kidney Inc lactic acid Inc TGs Inc uric acid Severe fasting hypoglycaemic |
|
|
Pompe findings? |
Cardiomegaly HCOM |
|
|
McArdle findings? |
Inc muscle breakdown Myoglobinuria Painful muscle cramps Arrhythmia from electrolyte imbalance |
|
|
Rx of McArdle? |
B6 |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Tissues with aldose reductase >sorbitol dehydrogenase? |
Lens |
|
|
Age dependent decline in lactase cause? |
Absence of lactase-persistent gene |
|
|
Glycogenolysis releases? |
Glucose-1-phosphate |
|
|
Debranching enzyme for first 3 residues? |
4-æ-D-glucanotransferase |
|
|
Debranching enzyme for last residue? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in classic galactosemia? |
Galactose-1-phosphate uridyltransferase |
|
|
G-1-P => ........ for being used in glycogen synthesis?enzyme? |
UDP-glucose UDP-glucos pyrophosphorylase |
|
|
Enzyme responsible for glycogen breakdown in lysosomes? |
æ-1,4- glucosidase |
|
|
Enzyme deficient in von Gierke? |
Glucose-6-phosphatase |
|
|
Enzyme deficient in pompe? |
æ-1,4-glucosidase |
|
|
Enzyme deficient in cori? |
æ-1,6-glucosidase |
|
|
Enzyme deficient in mcArdle? |
Myophosphorylase |
|
|
Von gierke findings? |
Inc size of liver & kidney Inc lactic acid Inc TGs Inc uric acid Severe fasting hypoglycaemic |
|
|
Pompe findings? |
Cardiomegaly HCOM |
|
|
McArdle findings? |
Inc muscle breakdown Myoglobinuria Painful muscle cramps Arrhythmia from electrolyte imbalance |
|
|
Rx of McArdle? |
B6 |
|
|
Enzyme for glucose =>sorbitol? Cofactor? |
Aldose reductase NADPH |
|
|
Enzyme for sorbitol=>.......? Cofactor? |
Sorbitol dehydrogenase Fructose NAD |
|
|
Tissues with both enzymes? |
Liver Ovaries Seminal vesicles |
|
|
Tissues with aldose reductase only? |
Schwann cells Retinal cells Kidney |
|
|
Tissues with aldose reductase >sorbitol dehydrogenase? |
Lens |
|
|
Age dependent decline in lactase cause? |
Absence of lactase-persistent gene |
|
|
Glycogenolysis releases? |
Glucose-1-phosphate |
|
|
Debranching enzyme for first 3 residues? |
4-æ-D-glucanotransferase |
|
|
Debranching enzyme for last residue? |
æ-1,6-glucosidase |
|
|
Cherry red macula in? |
Tay-sachs Niemann-pick |
|
|
Cherry red macula in? |
Tay-sachs Niemann-pick |
|
|
Tay-sachs vs niemann pick? |
TS=>lysosomes with onion skin No hepatospkenomegaly NP=>bubbles appearance macrophage Hepatosplenomegaly Both=> cherry red macula Progressive neuro degeneration |
|
|
Cherry red macula in? |
Tay-sachs Niemann-pick |
|
|
Tay-sachs vs niemann pick? |
TS=>lysosomes with onion skin No hepatospkenomegaly NP=>bubbles appearance macrophage Hepatosplenomegaly Both=> cherry red macula Progressive neuro degeneration |
|
|
Startle reflex with loud noises? |
Tay-sachs |
|
|
Findings in krabbe? |
Peripheral neuropathy Developmental delay Optic atrophy Globoid cells |
|
|
Metachromatic leukodystrophy findings? |
Central & peripheral demyelination Ataxia Dementia |
|
|
Metachromatic leukodystrophy findings? |
Central & peripheral demyelination Ataxia Dementia |
|
|
Fabry triad? |
HAP Hypohidrosis Angiokeratoma Peripheral neuropathy |
|
|
Enzyme deficient in hunter? |
Iduronate sulfatase |
|
|
Enzyme deficient in hunter? |
Iduronate sulfatase |
|
|
Enzyme deficient in hurler? |
Iduronidase |
|
|
Hunter findings? |
Aggressive behaviour No corneal clouding |
|
|
Hunter findings? |
Aggressive behaviour No corneal clouding |
|
|
Hurler findings? |
Gargoylism Airway obstruction Corneal clouding Hepatosplenomegaly |
|
|
Hunter findings? |
Aggressive behaviour No corneal clouding |
|
|
Hurler findings? |
Gargoylism Airway obstruction Corneal clouding Hepatosplenomegaly |
|
|
XR lysosomal storage dzs? |
Fabry Hunter |
|
|
Late findings in fabry? |
Cvs Renal involvement |
|
|
Hunter findings? |
Aggressive behaviour No corneal clouding |
|
|
Hurler findings? |
Gargoylism Airway obstruction Corneal clouding Hepatosplenomegaly |
|
|
XR lysosomal storage dzs? |
Fabry Hunter |
|
|
Late findings in fabry? |
Cvs Renal involvement |
|
|
Gaucher dz? |
Hepatosplenomegaly Pancytopenias Osteoporosis Aseptic necrosis of femoral head |
|
|
Vitamin used in measles? |
Vit A |
|
|
Dx of B1 deficiency? |
Inc activity of RBC transketolase after B1 administration |
|
|
Dry beriberi? |
Demyelination of peripheral nerves Symmetrical muscle wasting |
|
|
Vitamins required for B3 synthesis? |
B6 B2 |
|
|
Dry beriberi? |
Demyelination of peripheral nerves Symmetrical muscle wasting |
|
|
Vitamins required for B3 synthesis? |
B6 B2 |
|
|
Causes of pellagra? |
HIM Hartnup dz INH Malignant carcinoid |
|
|
Toxicity of B3? |
Flushing Hyperglycaemia Hyperuricemia |
|
|
CAT1 inhibited by? |
Malonyl coA |
|
|
Fatty acid synthesis uses ..... shuttle? |
Citrate |
|
|
Toxicity of B3? |
Flushing Hyperglycaemia Hyperuricemia |
|
|
CAT1 inhibited by? |
Malonyl coA |
|
|
Fatty acid synthesis uses ..... shuttle? |
Citrate |
|
|
Fatty acid breakdown uses shuttle? |
Carnitine |
|
|
Toxicity of B3? |
Flushing Hyperglycaemia Hyperuricemia |
|
|
CAT1 inhibited by? |
Malonyl coA |
|
|
Fatty acid synthesis uses ..... shuttle? |
Citrate |
|
|
Fatty acid breakdown uses shuttle? |
Carnitine |
|
|
Hypoketotic hypoglycaemia.dx? |
Defects in FA degradation |
|
|
Toxicity of B3? |
Flushing Hyperglycaemia Hyperuricemia |
|
|
CAT1 inhibited by? |
Malonyl coA |
|
|
Fatty acid synthesis uses ..... shuttle? |
Citrate |
|
|
Fatty acid breakdown uses shuttle? |
Carnitine |
|
|
Hypoketotic hypoglycaemia.dx? |
Defects in FA degradation |
|
|
Beta oxidation enzyme? |
Acyl coA dehydrogenase |
|
|
Toxicity of B3? |
Flushing Hyperglycaemia Hyperuricemia |
|
|
CAT1 inhibited by? |
Malonyl coA |
|
|
Fatty acid synthesis uses ..... shuttle? |
Citrate |
|
|
Fatty acid breakdown uses shuttle? |
Carnitine |
|
|
Hypoketotic hypoglycaemia.dx? |
Defects in FA degradation |
|
|
Beta oxidation enzyme? |
Acyl coA dehydrogenase |
|
|
Liver cant use ketones because? |
Deficient in thiophorase |
|
|
Toxicity of B3? |
Flushing Hyperglycaemia Hyperuricemia |
|
|
CAT1 inhibited by? |
Malonyl coA |
|
|
Fatty acid synthesis uses ..... shuttle? |
Citrate |
|
|
Fatty acid breakdown uses shuttle? |
Carnitine |
|
|
Hypoketotic hypoglycaemia.dx? |
Defects in FA degradation |
|
|
Beta oxidation enzyme? |
Acyl coA dehydrogenase |
|
|
Liver cant use ketones because? |
Deficient in thiophorase |
|
|
Conditions for ketones formation? |
Inc acetyl coA Dec oxaloacetate |
|
|
Toxicity of B3? |
Flushing Hyperglycaemia Hyperuricemia |
|
|
CAT1 inhibited by? |
Malonyl coA |
|
|
Fatty acid synthesis uses ..... shuttle? |
Citrate |
|
|
Fatty acid breakdown uses shuttle? |
Carnitine |
|
|
Hypoketotic hypoglycaemia.dx? |
Defects in FA degradation |
|
|
Beta oxidation enzyme? |
Acyl coA dehydrogenase |
|
|
Liver cant use ketones because? |
Deficient in thiophorase |
|
|
Conditions for ketones formation? |
Inc acetyl coA Dec oxaloacetate |
|
|
Fruity smell in DKA? |
Due to acetone |
|
|
Toxicity of B3? |
Flushing Hyperglycaemia Hyperuricemia |
|
|
CAT1 inhibited by? |
Malonyl coA |
|
|
Fatty acid synthesis uses ..... shuttle? |
Citrate |
|
|
Fatty acid breakdown uses shuttle? |
Carnitine |
|
|
Hypoketotic hypoglycaemia.dx? |
Defects in FA degradation |
|
|
Beta oxidation enzyme? |
Acyl coA dehydrogenase |
|
|
Liver cant use ketones because? |
Deficient in thiophorase |
|
|
Conditions for ketones formation? |
Inc acetyl coA Dec oxaloacetate |
|
|
Fruity smell in DKA? |
Due to acetone |
|
|
Urine test for ketones detects? |
Acetoacetate Not =>beta-hydroxybutyrate |
|
|
Toxicity of B3? |
Flushing Hyperglycaemia Hyperuricemia |
|
|
VLC FA beta oxidation occurs in? |
Peroxisomes =>special beta oxi |
|
|
CAT1 inhibited by? |
Malonyl coA |
|
|
Fatty acid synthesis uses ..... shuttle? |
Citrate |
|
|
Fatty acid breakdown uses shuttle? |
Carnitine |
|
|
Hypoketotic hypoglycaemia.dx? |
Defects in FA degradation |
|
|
Beta oxidation enzyme? |
Acyl coA dehydrogenase |
|
|
Liver cant use ketones because? |
Deficient in thiophorase |
|
|
Conditions for ketones formation? |
Inc acetyl coA Dec oxaloacetate |
|
|
Fruity smell in DKA? |
Due to acetone |
|
|
Urine test for ketones detects? |
Acetoacetate Not =>beta-hydroxybutyrate |
|
|
Toxicity of B3? |
Flushing Hyperglycaemia Hyperuricemia |
|
|
VLC FA beta oxidation occurs in? |
Peroxisomes =>special beta oxi |
|
|
Branched FA oxidation occurs in? |
Peroxisomes =>æ-oxi |
|
|
CAT1 inhibited by? |
Malonyl coA |
|
|
Fatty acid synthesis uses ..... shuttle? |
Citrate |
|
|
Fatty acid breakdown uses shuttle? |
Carnitine |
|
|
Hypoketotic hypoglycaemia.dx? |
Defects in FA degradation |
|
|
Beta oxidation enzyme? |
Acyl coA dehydrogenase |
|
|
Liver cant use ketones because? |
Deficient in thiophorase |
|
|
Conditions for ketones formation? |
Inc acetyl coA Dec oxaloacetate |
|
|
Fruity smell in DKA? |
Due to acetone |
|
|
Urine test for ketones detects? |
Acetoacetate Not =>beta-hydroxybutyrate |
|
|
Energy source for first 2 sec? |
ATP |
|
|
Energy source for first 2 sec? |
ATP |
|
|
Energy source for first 10 sec? |
Creatine phosphate |
|
|
Energy source for first 2 sec? |
ATP |
|
|
Energy source for first 10 sec? |
Creatine phosphate |
|
|
Energy source for first 1 min? |
Anaerobic metabolism |
|
|
Energy source for first 2 sec? |
ATP |
|
|
Energy source for first 10 sec? |
Creatine phosphate |
|
|
Energy source for first 1 min? |
Anaerobic metabolism |
|
|
Energy source for greater > 1 min? |
Aerobic |
|
|
Branched chain AA mostly yield? Exception? |
P=>M=>S=>TCA Leucine=> acetyl coA |
|
|
Glycogen depleted after ....days of hunger? |
1 |
|
|
Branched chain AA mostly yield? Exception? |
P=>M=>S=>TCA Leucine=> acetyl coA |
|
|
Glycogen depleted after ....days of hunger? |
1 |
|
|
Cytosolic HMGcoA synthase function? |
Cholesterol synthesis |
|
|
Branched chain AA mostly yield? Exception? |
P=>M=>S=>TCA Leucine=> acetyl coA |
|
|
Glycogen depleted after ....days of hunger? |
1 |
|
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Cytosolic HMGcoA synthase function? |
Cholesterol synthesis |
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Mitochondrial HMGcoA synthase function? |
Ketone production |
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Enzyme for IDL=>LDL. Enzyme? |
Hepatic TG lipase |
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LPL cofactor? |
Apo C2 |
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Lipoprotein associated with chylomicrons? |
Apo B48 |
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Enzyme for IDL=>LDL. Enzyme? |
Hepatic TG lipase |
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LPL cofactor? |
Apo C2 |
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Lipoprotein associated with chylomicrons? |
Apo B48 |
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Lipoprotein associated with VLDL? |
ApoB 100 |
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Biotin used by? |
PAP Pyruvate carboxylase Acetyl coA carboxylase Propionyl coA carboxylase |
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Consumption of raw egg white associated with? |
Biotin |
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Consumption of raw egg white associated with? |
Biotin |
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Component of eggs that bind to biotin? |
Avidin |
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Vitamin in leafy vegetables? |
Vit A Vit B9 |
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Phenytoin interferes with absorption of which enzyme? |
B9 Inhibits conjugase |
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Vit c function? |
1-Hydroxylation of lysine,proline,dopamine=>NE 2- Fe+3 => Fe+2(rx of metHb) |
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Vit c function? |
1-Hydroxylation of lysine,proline,dopamine=>NE 2- Fe+3 => Fe+2(rx of metHb) |
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Vit D formed in skin? |
Cholecalciferol D3 |
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Vit c function? |
1-Hydroxylation of lysine,proline,dopamine=>NE 2- Fe+3 => Fe+2(rx of metHb) |
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Vit D formed in skin? |
Cholecalciferol D3 |
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Vit D formed in which skin layer? |
Stratum basale |
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Vit c function? |
1-Hydroxylation of lysine,proline,dopamine=>NE 2- Fe+3 => Fe+2(rx of metHb) |
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Vit D formed in skin? |
Cholecalciferol D3 |
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Vit D formed in which skin layer? |
Stratum basale |
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Vit D from plants? |
Ergocalciferol D2 |
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Processes occurring in mitochondria? |
BAT OK Beta oxidation Acetyl coA production TCA cycle Oxidative phosphorylation Ketogenesis |
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Processes occurring in mitochondria? |
BAT OK Beta oxidation Acetyl coA production TCA cycle Oxidative phosphorylation Ketogenesis |
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NAD regeneration under aerobic/anaerobic conditions? |
Aerobic => electron transport chain Anaerobic => LDH |
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Garlic breath associated with? |
Arsenic poisoning |
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Almond breath associated with? |
Cyanide poisoning |
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ETC location in mitochondria? |
Inner membrane |
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Complex 5 is? |
ATP synthase |
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Garlic breath associated with? |
Arsenic poisoning |
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Almond breath associated with? |
Cyanide poisoning |
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ETC location in mitochondria? |
Inner membrane |
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Complex 5 is? |
ATP synthase |
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ATP synthase inhibited by? |
Oligomycin |
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Garlic breath associated with? |
Arsenic poisoning |
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Almond breath associated with? |
Cyanide poisoning |
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ETC location in mitochondria? |
Inner membrane |
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Complex 5 is? |
ATP synthase |
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ATP synthase inhibited by? |
Oligomycin |
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Oxygen receives electrons at which complex? |
4 |
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Complex 3 is? |
Cytochrome b |
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Garlic breath associated with? |
Arsenic poisoning |
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Almond breath associated with? |
Cyanide poisoning |
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ETC location in mitochondria? |
Inner membrane |
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Complex 5 is? |
ATP synthase |
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ATP synthase inhibited by? |
Oligomycin |
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Oxygen receives electrons at which complex? |
4 |
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Complex 3 is? |
Cytochrome b |
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Complex 4 is? |
a+a3 |
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Garlic breath associated with? |
Arsenic poisoning |
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Almond breath associated with? |
Cyanide poisoning |
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ETC location in mitochondria? |
Inner membrane |
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Complex 5 is? |
ATP synthase |
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ATP synthase inhibited by? |
Oligomycin |
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Oxygen receives electrons at which complex? |
4 |
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Complex 3 is? |
Cytochrome b |
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Complex 4 is? |
a+a3 |
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Complex 3 & 4 linked by? |
Cytochrome c |
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Garlic breath associated with? |
Arsenic poisoning |
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Enzymes of non oxidative phase of HMP shunt? |
Phosphopentose isomerase Transketolase |
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Transketolase requires? |
B1 |
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Almond breath associated with? |
Cyanide poisoning |
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ETC location in mitochondria? |
Inner membrane |
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Complex 5 is? |
ATP synthase |
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ATP synthase inhibited by? |
Oligomycin |
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Oxygen receives electrons at which complex? |
4 |
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Complex 3 is? |
Cytochrome b |
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Complex 4 is? |
a+a3 |
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Complex 3 & 4 linked by? |
Cytochrome c |
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G6PD regulation? |
Inhibited by NADPH |
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Urea cycle enzyme def with different inheritance pattern? |
Ornithine transcarbamoylase (XR) Other are AR |
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Tyrosinase moa? |
Dopa=> melanin |
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Debranching enzyme parts? |
4-æ-D glucanotransferase æ-1,6-glucosidase |
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Ghb |
Vvc |
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Debranching enzyme combo? |
4-æ-D glucanotransferase æ(1,6) glucasidase |
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æ-1,4 glucasidase present in? |
Lysosomes |
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Debranching enzyme combo? |
4-æ-D glucanotransferase æ(1,6) glucasidase |
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æ-1,4 glucasidase present in? |
Lysosomes |
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Acid maltase? |
æ 1,4 glucosidase |
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Peroxisomes storage dz? |
Zellweger Refsum X linked adrenoleukodystrophy |
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Process defective in refsum? |
æ oxidation of branched chain AA |
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Debranching enzyme combo? |
4-æ-D glucanotransferase æ(1,6) glucasidase |
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æ-1,4 glucasidase present in? |
Lysosomes |
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Acid maltase? |
æ 1,4 glucosidase |
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Peroxisomes storage dz? |
Zellweger Refsum X linked adrenoleukodystrophy |
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Process defective in refsum? |
æ oxidation of branched chain AA |
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Process defective in X linked adrenoleukodystrophy? |
Special beta oxidation of VLC FA |
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Rx of refsum? |
No chrolophyl in diet |
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Sources that convert NADH to NAD? |
Under aerobic conditions => ETC under anaerobic =>LDH |
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Obligate activator of gluconeogenesis? |
Acetyl coA =>pyruvate carboxylase |
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Sources that convert NADH to NAD? |
Under aerobic conditions => ETC under anaerobic =>LDH |
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Obligate activator of gluconeogenesis? |
Acetyl coA =>pyruvate carboxylase |
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Apo E absent on? |
LDL |
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Sources that convert NADH to NAD? |
Under aerobic conditions => ETC under anaerobic =>LDH |
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Obligate activator of gluconeogenesis? |
Acetyl coA =>pyruvate carboxylase |
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Apo E absent on? |
LDL |
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A 1 function? Present on? |
Activates LCAT HDL ,Chylomicrons |
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Sources that convert NADH to NAD? |
Under aerobic conditions => ETC under anaerobic =>LDH |
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Obligate activator of gluconeogenesis? |
Acetyl coA =>pyruvate carboxylase |
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Apo E absent on? |
LDL |
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A 1 function? Present on? |
Activates LCAT HDL ,Chylomicrons |
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C2 functions? Present on? |
Activates LPL VLDL,chylomicron,hdl |
