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81 Cards in this Set
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- Back
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increased direct bilirubin (conjugated)
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hepatic damage Bile duct obstruction
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increase indirect bilirubin (unconjugated)
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hemolysis Crigler najar Gilbert syndrome Low levels of conjugation enzymes
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B6 def
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microcytic siderblastic anemia Protoporphyrin decreased ALA decreased Ferritin increased Serum Fe increased
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Lead Poisoning
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coarse basophilic stippling Headache, nausea, memory loss Abdomincal pain, diarrhea Lead lines in gums Lead deposits seen on x-ray Neuropathy (claw hand, wrist drop) ↑ urinary ALA ↑ free erythrocytic protoporphyrin Ferritin ↑ Serum Fe ↑
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porphyria cutanea tarda
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photosensitvity Port wine urine Skin lesions
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acute intermittent porphyric
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def of uroporphyrinogen 1 synthase Autodominant, late onset Episodic, variable expression Acute abdominal pain, neuropathy No photosensitivity Port wine urine in some pt Never give barbituates Excretion of ALA or PBG
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branched chain ketoacid dehydrogenase def
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maple syrup urine disease Urine has sweet smell Mental retardation Abnormal muscle tone – infants alternating hyper and hypo tonia Ketosis Coma, death
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alcaptonuria
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def of homogentisate oxidase Dark urine – turns dark when exposed to air Ochronosis Arthritis Build up of homogentistic acid
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phenylketonuria
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Def of phenylalanine hydroxylase mental retardation Microcephaly Musty odor to urine
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Ketogenic + glucogenic aa
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phenylalanine Tyrosine Tryptophan Threonine Isoleucine
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ketogenic aa
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leucine Lysine
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ornithine transcarbamolyase
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↑ NH4 ↑ blood glutamine, BUN ↓ Uracil + orotic acid ↑ Cerebral edema Lethargy, convulsions, coma, death
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carbamoyl phosphate synthetase
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↑ NH4 ↑ blood glutamine, BUN ↓ No ↑ in uracil or orotic acid Cerebral edema Lethargy, convulsions, coma, death
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hartnup disease
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defective transport of large neutral AA in intestines and kidney → ↓ tryptophan → cant synth niacine aa lost in urine Pellegra
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niemann pick disease
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def of sphingomyelinase Accumulation of sphingomyelin in inclusion body Cherry red spot in macula Hepatosplenomegaly Microcephaly, severe mental retardation Zebra bodies in inclusions Foamy macrophages Early death
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gaucher diease
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def in glucocerbrosidase Glucocerebroside accumulates in inclusion body Hepatosplenomegaly, erosion of bones, fractures Pancytopenia or thrombocytopenia Crumpled paper inclusions – characteristic macrophages
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jamaican vomiting sickness
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ackee fruit Inhibitor of fatty acyl-CoA dehydrogenase Sudden onset of vomiting 2-6hrs later
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MCAD def
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fasting hypoglycemia No ketone bodies Dicarboxylic acidemia C8-C10 acyl carnitines in blood Vomiting, coma, death Cant degrade FA → no ATP = cell death
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myopathic CAT/CPT def
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muscle aches, weakness, phabdomyolysis, myoglobinria Proboked by prolonged exercise esp if fasting Biopsy ↑ muscle triglyceride Cant really carry FS across inner Mt membrane
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↑ cholesterol in cells
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↓ HMG CoA reductase → no synth ↑ ACA → storage ↓ LDL receptor → no uptake
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↓ cholesterol in cells
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↑ HMG-CoA reductase → synth ↓ ACAT → no storage ↑ LDL receptor → cholesterol uptake
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type II hyperlipidemia
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familial hypercholesterolemia, auto dominant ↑ cholesterol, ↑ LDL Xanthomas
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type I hyperlipidemia
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def familial lipoportein lipase, apoC-II Auto recessive ↑ TAG, ↑ chylomicrons Red organge eruptive xanthomas Faty liver Acute pancreatitis Ab pain after fatty meal
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Abetalipoproteinemia
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defect in apoB-48 or B100 → ↓ TG + cholesterol Steatorrhea Cerebellar ataxia Pigmentory degeneration in retina Acanthocytes Possible loss of night vision
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hemolytic jaundice
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direct bilirubin – normal Indirect – increased Urinary bilirubin – absent
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Von Gierke
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def glucose 6 phosphate (gluconeogenic enzyme) Severe hypoglycemia, lactic acidosis Hepatomegaly, hyperlipidemia, short stature Hyperuricemia - ↓ Pi → ↑ AMP → uric acid ↑ VLDL Glycogen structure normal Enlarged kidneys Hepatic adenomas Bleeding diathesis
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G6PDH def
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hemolytic anemia – hein bodies ↓ ROS → cant kill bacteria Allelic heterogeneity, x-linked recessive Fava beans → pallor, hemaglobinuria, jaundice, anemia
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Enzymes Requiring Thiamine
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all require TLCFN (tender lovin care from nancy) Transketolase PDH ak6 dehydrogenase Branched chain ketoacid dehydrogenase
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Alcoholics + hypoglycemia
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high NADH from alcohol dehydrogenase + acetoaldehyde interfere w/ gluconeogenesis High NADH → lactate from pyruvate, malate from AA, glycerol-3-phosphate from DHAP
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Hers Disease
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Def hepatic glycogen phosphorylase Mild fasting hypoglycemia Hepatomegaly, cirrhosis Glycogen – normal – accumulates in liver b/c cant break 1,4 bonds
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McArdle
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def muscle glycogen phosphorylase Muscle cramps and weakness on exercise No fasting hypoglycemia Glycogen – normal – accumulates in muscle b/c cant break 1,4 bonds
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Andersen
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def branching enzyme Infantile hypotonia, cirrhosis Death by 2yrs Glycogen – very few branches, esp near periphery
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Cori disease
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def glycogen debranching enzyme Mild hypoglycemia Liver enlargement Glycogen – short outer branches, single glucose residue on outer branch
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Pompe
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def a 1,4 glucosidase Cardiomegaly, muscle weakness Death by 2yrs Glycogen like material in inclusion bodies
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ETC
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Inhibitors
↓ O2 consumption ↓ ATP ↑ NADH/NAD+, FADH2/FAD Uncouplers ↑ O2 consumption ↓ ATP ↑ oxidation of NADH |
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cyanide
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bind irreversibly to cytochrome a/a2, preventing e- transfer to O2 Sources – burning polyurethena, nitroprusside
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troponin T and I
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Appear 3-6 hours after MI Peak by 16hrs, elevated for 1 week In absence of elevated ST segment, ↑ troponin I and T → high risk for MI
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pyruvate dehydrogenase
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TLCFN Thiamine pyrophosphate Lipoic acid Coenzyme A FAD(H2) NAD(H)
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fructose 1-P aldolase def
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lethargy, vomiting Liver damage, hyperbilirubinemia Hypoglycemia – no phosphate to generate ATP Hyperuricemia Renal proximal tubule defect Auto recessive
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galactosemia
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Auto recessive, begins day 3 of life Cataracts, jaundice, hyperbillirubinemia – does not resolve w/ phototherapy Galactose kinase or galactose 1-p uridyltransferase def
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lactose intolerance
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lactase def Dx – positive hydrogen breath test
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Gal-1P uridyltransferase def
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cataracts early in life Vomiting, diarrhea following lactose ingestion Lethargy Liver damage, hyperbilirubinemia Mental retardation
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galactokinase def
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cataracts early in life Galactose → (via aldose reductase) galacitol
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pyruvate kinase def
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chronic hemolysis ↑ 2,3 BPG → ↓ O2 affinity Acuum of 3 phosphoglycerol, 2 phosphoglycerate, PEP Block in glycolysis below PEP No heinz bodies
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vitamin K def
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poor nutrition + malnourishment Lack of medications Exclussively breastfed Prolonged diarrhea Occult blood in stools Prolong PT Normal LFT
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vitamin A toxicity
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excessive sweating Brittle nails Diarrhea Birth defects
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vitamin A def
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night blindness Metaplasia of corneal epithelium Xerothalmia Bronchitis, pneumonia Follicular hyperkeratosis Bitot spots in eyes
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scurvy
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vitamin C def – in infant Pithed frog position Bruising and swelling Painful when touched or moved Bottle fed – boiled for long time No gum bleeding unless teeth present ↑ BT, glossitis, anemia
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HNPCC (lynch syndrome)
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mutation in hMLH1 or hMsH2 Defective mismatch repair genes Microsatellite instability → short tandem repeats
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pantohenic acid Coa
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fatty acid synthase Fatty acyl CoA synthetase Pyruvate dehydrogenase a ketoglutarate dehydrogenase Rare
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Ascorbate
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Prolyl + lysyl hydroxylation – collagen Dopamine hydroxylase MCC – diet def
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riboflavin (B2) FADH2
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dehydrogenases Corneal neovascularization Cheilosis or stomatitis Magenta colored tongue
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Pyridoxine (B6) Pyridoxal -P (PLP)
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aminotransferase (transaminase) – protein catabolism AST, ALT ALA synthase MCC isoniazid therapy (TB) Sideroblastic anemiac Cheilosis or stomatitis Convulsions
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cyanocobalamin (B12)
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homocystein methyltransferase – methinine SAM Methylmalonyl CoA mutase – odd chain FA, Cal, Met, Ile, Thr MCC – pernicious anemia Progressive peripheral neuropathy Hypersegmented neutrophils
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Folic acid
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thymidylate synthse – dUMP → dTMP MCC – alcohol + pregnancy, body stores 3 months Homocystinemia → DVT + athersclerosis Megaloblastic anemia Neural tube defect
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Niacin (B3)
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NAD, NADP 3 Ds Pellegra – diarrhea, demntia, dermatitis → death Also def in tryptophan
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Thiamine – B1
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pyruvate DH a -ketoglutarate DH Transketolase – HMP shunt MCC – alcoholism Wernicke – ataxia, nystagmus, opthalmoplegia Korsakoff – confabulation, psychosis Wet beri beri – high out put cardiac failure Dry beri beri – w/o fluid retention
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biotin
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pyruvate carboxylase – glucogenesis Acetyl CoA carboxylase Propionyl CoA carboxylase – odd chain FA, cal, met, ile, thr MCC – excessive consumption of raw eggs – contain avidin – biotin binding protein Alopecia, bowel inflammation, muscle pain
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enzyme inhibitors
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competitive reversible – Km ↑ , Vmax - Non comp, reversible – Km - , Vmax ↓
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Marasmus
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starving to death, not enough calories Wasting, no edema, no fatty liver
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kwashiorkor
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def in protein Edema, swollen abdomen, ascites Fatty liver Not enough protein → ↓ albumin → ↓ oncotic pressure → ascites Liver cant synth apolipoprotein → liver accumulate fat
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HIV testing
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elisa and western blot – test for antibodies PCR – test for viral genome
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Fragile X
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FMR1 gene, CGG repeats Leading cause of inheritied MR Large ears, elongates face, hypermobile joints, macroorchidism
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xeroderma pigmentosum
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defect in DNA repair mech – excision endonuclease Doesnt remove thymine dimers caused by UV light Auto recessive Sensitivity to light – freckling, ulcerations, skin cancer
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Etoposide Teniposide
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block DNA topoisomerase II Anti cancer
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Quinolones
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block topoisomerases Nalidinic acid inhibits DNA gyrase Ciproflaxacin Norfloxacin
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Daunorubicin + doxorubicin
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anti tumor drugs Intercalate DNA → inhibits topoisomerase II
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thymidalate synthase
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converts dUMP → dTMP Methotrexate inhibits → DMARD, cancer
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Prader – willi syndrome
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inactivation/deletion of paternal gene on chromosome 15 Childhood obesity/hyperphagia Hypogonadotrophic hypogonadism Small hands and feet Mental retardation Hypotonia
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Klein-Waardenburg Syndrome
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all of the tissues affected are derived from embryonic tissue in which PAX-3 expressed Dystopiacanthorum – lateral displacement of inner corner of eye Pigmentory abnormalities – frontal white blaze of hair Congenital deafness Limb abnormalities
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zellweger syndrome
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def of perixiosomes → accum of long chain fatty acids
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Menke's disease
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def cross linking 2ndary to fxnal Cu def Defect in Cu efflux protein in intestinal epithelium Depigmented (steely) hairy, arterial tortuosity, rupter Cerebral degeneration, osteoperosis, anemia X-linked recessive Lysyl oxidase in collagen requires Cu
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Ehlers Danlos
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defective proline or lysine hydroxylase in collagen cynth → poorly formed collagen → loose ECM Hyperextensible fragile skin Hypermobile joints, dislocations, varicose veins Ecchymoses, arterial intestinal ruptures
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I cell disease
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lysosomal enzymes released into extracellular space – inclusion bodies Coarse features, gingival hyperplasia, macroglosia Mutation in phosphotransferase Craniofacial abnormalities, joint immobility, club foot, claw hand, scoliosis Psychomotor retardation, growth retardation Cardio respiratory failure Death w/in first decade
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a1 antitrypsin def
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z mutation – mis folding Aggregates in ER Is inhibitor of proteases (normal)
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X linked disease
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duchenne muscular dystrophy Hemophilia Chronic granulomatous Glucose 6 phosphate dehydrogenase Agammaglobulinemia Wiskott-Aldrich Diabetes insipidus Lesch-nyhan syndrome Fragile x Color blindnes
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Smith-Lemli-Opitz Syndrome
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cant metabolize 7-dehydrocholesterol to cholesterol Microcephaly Mental retardation Hypotonia Incomplete development of genitalia High forehead Pyloric stenosis Syndactyl of 3rd and 2nd toes
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Trisomy 21 – Down Syndrome
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mental retardation Protruding tongue Simian crease Congenital heart defects Flat nasal bridge
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Trisomy 13 – Patau syndrome
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mental retardation Nervous system malformations Rocker-bottom feet Polydactlyly Cleft lip and palate
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Trisomy 18 – Edwards
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micrognathia Prominent occiput Low set ears Rock bottom feet Cardiac complications – ventricualr septal defect Growth retardation
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Tay-sachs
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auto recessive – askanazi jews Def in hexosaminidase A – degrades bond between N-acetyl glucosamine and galactose → degrades glycolipids Build up of glycolipids in brain Mental retardation, blindness Muscular weakness Cherry red spot on macula Gangliosidosis
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