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206 Cards in this Set
- Front
- Back
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what kinds of enzymes are trypsin, chymotrypsin, plasmin, thrombin, plasminogen, cathepsin and elastase
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serine proteases
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homogentisate oxidase
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defective in alkaptonuria
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7 alpha hydroxylase
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conversion fo lipid cholesterol to bile acid
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glutathione
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natural antioxidant
key role in gamma-glutamyl cycle |
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key enzyme for amino acid transport
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glutathione in the gamma-glutamyl cycle
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elevated PGB and ALA
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acute intermittent porphyria
deficiency in PBGD (porphobilinogen deaminase) |
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port-wine color urine
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acute intermittent porphyria
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increased urinary copropophyrins
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porphyria cutanea tarda
congenital erythropoietic porphyria hereditary coproporphyria |
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effect of citrate on glycolysis
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activates PFK-1, the rate limiting step
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best method of detection antibodies to Lyme disease pathogens
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western blotting
Lyme is in eastern CT but you do a western! (which can detect proteins) you can do ELISA but it's less specific (many false positives) |
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abnormal histidine metabolism
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histidinemia
affected enzyme is histadine decarboxylase histidine accumulates |
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abnormal methionin metabolism
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homocystinuria and cystathioninuria
enzyme deficiency is cystathionine synthase (in homo...) |
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abnormal tyrosie metabolism
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associate with
1) albinism deficiency in tyrosinase or tyrosine transporter 2) alkaptonuria deficiency in homogentisate oxidase |
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endopeptidase
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cuts an amino acid bond within a molecule
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exopeptidase
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remove amino acid residues from amino or caroxyl terminus of protein, and so either aminopeptidase or carboxypeptidase
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aminopeptidase
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cuts of terminal amino group (left)
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carboxypeptidase
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cuts of terminal carboxy group (right)
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met-enkephalin
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opioid peptide
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hydroxyurea treatment
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sickle-cell homozygotes need it
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test to determine RNA levels in a cell
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northern blot
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test to study DNA on a gross level
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southern blot
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test to look for presence or absence of a particular protein
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western blot
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test to determine if people are carriers of a disease
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PCR
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effect of B12 deficiency on HbA1c
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overstates it because of reduced RBC turnover and increased survival (recall that HbA1c is a stable product)
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effect of iron supplementation on HbA1c
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understates it because of increased blood cell turnover
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effect of G6PD on HbA1c level
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understates it because fo greater RBC turnover
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aas that are only ketogenic
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leucine
lysine |
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aa's that are keto and glucogenic
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Isoleucine
phenylalanine tryptophan tyrosine Two TIPs |
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essential amino acids
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Leucine, Lysine, Isoleucine
phenylalanine tryptophan, threonine Histidine methionine valine |
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branched chain amino acids
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maple syrup urine disease
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glycolipid disease
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Tay-Sachs
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glycoprotein disease
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Hunters
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disorder with sulfur-containing amino acid
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homocystinuria
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child
cardiomyopathy pulmonary rales |
thiamine deficiency
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cheilosis
glossitis dermatitis |
riboflavin deficiency
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wet beri beri
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cardiomyopathy
high output heart failure |
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dry beri beri
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polyneuroapthy
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mammilary body degeneration
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Wernicke-Korsakoff
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diet containing polished rice
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thiamine deficiency
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progressive polyeuropathy
myelin degeneration foot drop and wrist drop |
dry ber beri
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irreversible enzymes in gluconeogensis
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pep carboxykinase
fructose 1,6 bisphosphate G6phosphatase |
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irreversible enzymes in glycoslysis
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hexokinase, glucokinase
phosphofructokinase pyruvate kinase |
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glucose 6 phosphatase
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von Gierke's
G6P to glucose |
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difference between glucokinas and hexokinase
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glucokinase is
- specifice for glucose - unresponsive to level of G6P - stores excess glucose - low affinity (high Km) so that it is active only when glucose is very high |
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defective gamma carboxyglutamate residues
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vitamin K deficiency, because Vitamin K is required to convert them
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failed conversion of homocysteine to methionine
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B12 deficiency
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conversion of methylmalonyl-CoA to succinyl-CoA
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B12
so many letters (13 in methylmalonyl) |
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degradation of cystathionine
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B6
sick six cystathionine |
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hydroxylation of proline
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vitamin C
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pellagra-like skin eruptions
cerebellar ataxia aminoaciduria |
Hartnup disease
defective neutral amino acid transport |
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defective neutral amino acid transport
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Hartnup
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failed hydrolysis of glycogen
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McArdle disease
severe muscle weakness cramps with moderate exercise defective muscle glycogen phosphorylase |
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defective myophosphorylase
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McArldes
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hypertonia
irritability hyperesthesia psychomotor retardation early death |
Krabbe
deficiency in galactocerebroside-galactosidease |
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hepatosplenomegaly
microcephaly severe mental retardation early death |
Niemann-Pick
sphingomyelinase deficiency |
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thiamine's role in reducing lactic acidosis
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ensures that pyruvate, via pyruvate dehydrogenase, goes to acteyl coA instead
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cofactor for pyruvate carboxylase
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biotin
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cofactors for pyruvate dehydrogenase
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thiamine
lipoic acid CoA |
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cofactors for pyruvate decarboxylase
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thiamine
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thymine pyrophosphate
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the co-enzyme version of thymine
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LCAT
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esterifies free cholesterold in plasma
defective in triclyceridemias (I, V) upped by clofibrate and genfibrozil |
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Apo AI
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activates LCAT which esterifies free cholesterol in plasma
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Apo E
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on VLDL, IDL, chylomicrons
allows scavenging by the liver of remonants |
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apo C
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defective in triglyceridemias (along with LCAT)
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infant
hyperammonemia high glutamine high orotic acid in urine |
OTC (ornithin transcarbamalase) deficiency
vs CPS (carbamoyl phosphate synthetase) deficiency in which there is no high oritic acid |
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defect in purine degradation pathway
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gout
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musty odour
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phenylketoneuria
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in phenylketonuria what cannot be produced from phenylalanine
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tyrosine
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matted, depigmented hair that appears kinky
major facial deformities sagging cheeks and ears depressed nasal bridge high arched palate seiqures |
lysyl oxidase deficience
Ehler Danlos IX or Menkes ATP7A |
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Atp7A gene
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Ehler Danlos
defect in copper transport leading to low activity of lysyl oxidase, a copper dependent enzyme that crosslinks collagen |
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N-acetylglucosamine-1-phosphotransferase
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I cell disease
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kinky hair
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Menckes, Ehler Danlos
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low levels of glutathione reductase
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selenium deficiency
myopathy cardiomyopathy |
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increased acetoacetic acid
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starvation
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alopecia
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biotin deficiency
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excessive consumption of raw eggs
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biotin deficiency
(because of avidin which binds biotin) |
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associate gamma carboxylation with
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sites that bind calcium ions
blood clotting factors |
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associate phosphorylation with
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liver storing glucose
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fructose-1-phosphate (aldolase B)
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Fructose intolerance
severe hypoglycemia because accumulating F1P inhibits glycogenolysis and gluconeogenesis |
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lack of glycogen branching enzyme
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Anderson disease
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progressive cirrhosis
myopathy heart failure |
Anderson disease
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lack of glycogen debranching enzyme
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Cori disease
progressive muscle weakness in adulthood |
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excessive consumption of raw eggs
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biotin deficiency
(because of avidin which binds biotin) |
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lack of lysosomal acid-a-glucosidase
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Pompe disease
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associate gamma carboxylation with
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sites that bind calcium ions
blood clotting factors |
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what do McArde, Pompe, Andersen, Von Gierke, Hers, have in common
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glycogen storage diseases
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associate phosphylation with
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liver storing glucose
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result of delat F 508 mutation in CFTR
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misfolded CFTR
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fructose-1-phosphate (aldolase B)
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Fructose intolerance
severe hypoglycemia because accumulating F1P inhibits glycogenolysis and gluconeogenesis |
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lack of glycogen branching enzyme
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Anderson disease
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progressive cirrhosis
myopathy heart failure |
Anderson disease
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lack of glycogen debranching enzyme
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Cori disease
progressive muscle weakness in adulthood |
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lack of lysosomal acid-a-glucosidase
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Pompe disease
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what do McArde, Pompe, Andersen, Von Gierke, Hers, have in common
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glycogen storage diseases
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result of delat F 508 mutation in CFTR
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misfolded CFTR
bad post-translational processing of oligosaccharide side chains abnormal CFTR degraded by proteasome instead of going to cell membrane |
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deletion of phenylalanine at position 508
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CF
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alpha 1/4-glucosidase deficiency
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Pompe
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debranching enzume deficiency
many short branched chains |
Cori's
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Branching enzyme deficiency
few long chains |
Andersons's disease
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glucosyl-4,6-transferase deficiency
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Andersen's disease
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2 diseases taht lead to abnormal glycogen structure
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Cori's - no debranching
Andersen's - no branching no branching is worse because you end up with few long chains leading to hepatosplenomegaly, cirrhosis |
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liver glycogen phosphorylase deficiency
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Hers'
(like von Gierke's but less severe) |
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MM
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creatine kinase isoform associated with skeletal muscle damage
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BB
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creatine kinase isoform associated with brain damage
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MB
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creatine kinase isoform associated with heart damage
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method to identify and detect DNA binding proteins and their specific sites on the DNA
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southwestern blot
Southern identifies DNA Western identifies proteins based on antibodies |
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FGF-R 3 mutation
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achondroplasia
inhibits chondrocyte proliferations |
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Type 1 collagen mutations
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osteogenesis imperfecta
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megaloblastosis
hypochromic anemia low hemoglobin urine with white, needle-shaped crystals |
orotidine 5' phosphate decarboxylase deficiency
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arylsulfatase A
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metachromic leukodystrophy
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galactosylceramidase
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Krabbes
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ceramidase
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Farber
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sphignomyelinase
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Niemann pick
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alpha galactosidase A
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Fabry
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beta glucosidase
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Gaucherc
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cofactor for phenylalanine hydroxylase
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BH4
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pathway that homogentisate oxidase is on
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tyrosine/melanin degradation
deficiency leads to Alkaptonuria/Ochronosis |
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homocysteine is on what pathway
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methionine degradation
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cofactor for NPTHN in homocystein - methionine
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B12
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SAM is on what pathway?
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methionine degredation (intermediate between methionine and homocystein
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cofactor for cystathione synthase
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B6 pyridoxine
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cystinuria happens on which pathway
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methionine degradation
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tyrosine is derivative of
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phenylalanine
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niacin is derivative of
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tryptophan
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serotonin is derivative of
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tryptophan
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melatonin is derivative of
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tryptophan
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histamine is derivative of
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histidine
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porphyrin is derivative of
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glycine
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heme is derivative of
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glycine, via porphyrin
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creatine is a derivative of
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arginine
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urea is a derivative of
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urea
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NO is a derivative of
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arginine
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GABA is a derivative of
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glutamate
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glutamine is involved in which pathway?
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purine synthesis
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IMP is on which pathway
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purine synthesis
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HGPRT is on which pathway
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purine salvage
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adenosine deaminase is on which pathway
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purine salvage
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NPTHN deficiency
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homocysteinuria
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cystationine synthase deficiency
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homocysteinuria
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deficiency in transporter protein in renal tubules and eptihelial cells of intestines
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cystinuria
carries COLA cystein ornithine lysine arginine |
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HGPRT deficiency
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Lesch Nyhan
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adenosine deaminase deficiency
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SCID
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Xanthine oxidase is on which pathway
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purine salvage
(inhibited by allopurinol) |
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uric acid accumulates on which pathway?
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purine salvage
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overactive PRPP (pathway and disorder)
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purine synthesis
gout |
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orotic aciduria happens on whic pathway?
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pyrimidine nucleotide synthesis
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products of purine synthesis
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AMP, GMP, IMP
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products of pyrimidine synthesis
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UTP, CTP
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products of pyrimidine degradation
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acetyl coA
succinyl CoA |
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dihydrofolate reductase is on which pathway?
what inhibits it? |
thymidylate synthesis
methotrexate |
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product of thymidylate synthesis
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dTMP
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what is purpose of thymidylate synthesis
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regeneratig tetrahydrofolate
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pathway that porthyrins are on
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heme synthesis
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pathway of lead poisoning
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heme synthesis
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ferrochetolase
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inhibitied by lead
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ALA dehydrase
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inhibited by lead
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ALA synthase
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inhibited by hemin
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uroporphyrinogen I synthase
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deficient in acute intermittent porphyria
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uroporphyrinogen III cosynthase
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deficient in congenital erythropoietc porphyria
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Coproporphyrinogen oxidase
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deficient in hereditary coproporphria
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uroporphyrinogen decarboxylase (UROD)
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deficient in porphyria cutanea tarda
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disease that is the homozygous version of porphyria cutaea tarda
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hepatoerythropoietic porphyria
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rate limiting step in heme synthesis
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ALA synthase
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what does albumin limit in heme degredation
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transport from phage to liver of bilirubin
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what does bile limit in heme degradation
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transport of conjugated bilirubin to intestines
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cobalamin mediates both
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homocystein to methionine
methyl tetrahydrofolate to tetrahydrofolate |
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sideroblastic anemia
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pyridoxine B6
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tetany
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calcium deficiency (which can be scondary to magnesium deficiency)
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magnesium excess
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bradycardia
neuromuscular depression |
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heart stops in diastole
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too much potassium
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muscle weakness
rhabdomyolysis with myoglobinuria hemolytic anemia |
phosphorus deficiency
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poor wound healing
dysgeusia (inability to taste) anosmia perioral rash hypogonadism, growth retardateion |
zinc deficiency
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mircocytic anemia
aortic dissection poor wound healing |
copper deficiency
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impaired glucose tolerance
peripheral neuropathy |
chromium deficiency
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muscle pain and weakness
cardiomyopathy |
selenium deficiency
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white, needle shaped crystals in urine
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orotic acid from the pyrimidine production pathway in the case of deficiencys of orotidine enyzmes
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provides FAD[H2]
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riboflavin
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provides NAD[H]
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niacin
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what activates pyruvate carboxylase
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acetyl coA
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hemolytic anemia
heinz bodies |
G6PD deficiency
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hemolytic anemia
no Heinz bodies |
pyruvate kinase deficiency
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inhibitors of hexokinase
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G6P
glucagon |
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activators of hexokinase
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insulin
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inhibitors of glucokinase
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Fructose 6 phosphate
glucagon |
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activators of glucokinase
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insulin
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where are hexokinase and glucokinase found
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hexo everyhwere
gluco in liver and pancreas |
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inhibitors of phosphofructokinase
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glucagon
ATP citrate |
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activators of phosphofructokinase
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fructose 2, 6 bisphosphate
insulin AMP |
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inhibitors of pyruvate kinase
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glucagon
ATP alanine |
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activators of pyruvate kinase
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insulin
fructose 1,6 bisphosphonate |
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use of methemoblobin
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cyanide poisoning because it can sequester cyanide
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glomerulosa
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aldosterone
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fasciulata
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cortisol
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reticularis
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androgens
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coA constituent
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B5
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B vitamin involved in heme synthesis
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B6
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cofactor for 1 carbon transfers
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folic acid
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aminoaciduria
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Hartnup
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why will hartnup disease someitmes have pellagra sypmtoms
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because tryptophan isn't transported and it is the precursor for niacin
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diabetes
no puberty obesity mental retardation hypogonadism |
Praeder Wili
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mental retardation
wide set eyes (hypertelorism) cardiac defects microcephaly |
cri du chat (deletion on Ch 5)
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long face
large ears large jaw large testicles |
Fragile X
also mental retardation FMR-1 gene |
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FMR-1 gene
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Fragile X
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Homans sign
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increase in calf pain with sharp dorsiflexion of left ankle
indicates DVT |
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young boy
pancytopenia cafe au lait spots deformed thumbs on both hands hypocellularaity on bone marrow, as with aplastic anemia |
Fanconi syndrome
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positive Homan's sign
on oral contraceptives |
Factor V leiden
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