USMLE Biochem Crap
Terms
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- Self-mutilation, gout, choreiform movements, mental retardation
- Lesch-Nyhan syndrome (X-linked recessive)
- HGPRT deficiency
- Lesch-Nyhan syndrome (X-linked recessive)
- Adenosine deaminase deficiency
- SCID
- Deficiency of branched-chain alpha-ketoacid dehydrogenase
- Maple syrup urine disease (autosomal recessive)
- Accumulation of leucine, isoleucine and valine in blood
- Maple syrup urine disease (autosomal recessive)
- Deficiency of homogentisic acid oxidase
- Alkaptonuria (autosomal recessive)
- Urine turns black on standing; darkened tympanic membrane; arthralgias
- Alkaptonuria (autosomal recessive)
- Deficiency of phenylalanine hydroxylase
- Phenylketonuria
- Deficiency of glucose 6-phosphate
- von Gierke disease (glycogen storage disease type I)
- Deficiency of lysosomal alpha (1 -->4) glucosidase
- Pompe disease (glycogen storage disease type II)
- Deficiency of skeletal muscle glycogen phosphorylase
- McArdle disease (glycogen storage disease type V)
- Deficiency of galactose 1-phosphate uridyltransferase
- Classic galactosemia
- Accumulation of galactitol (converted from galactose via aldose reductase)
- Classic galactosemia
- Angiokeratomas, renal failure, peripheral neuropathy
- Fabry disease (X-linked recessive)
- Deficiency of alpha-galactosidase A
- Fabry disease (X-linked recessive)
- Accumulation of ceramide trihexoside
- Fabry disease (X-linked recessive)
- Hepatosplenomegaly, aseptic necrosis of femur, bone crises, wrinkled tissue paper appearance to cytoplasm of macrophages
- Gaucher disease (autosomal recessive)
- Deficiency of beta-glucocerebrosidase
- Gaucher disease (autosomal recessive)
- Accumulation of glucocerebroside
- Gaucher disease (autosomal recessive)
- Progressive neurodegeneration, HSM, cherry-red spot on macula, foamy histiocytes
- Niemann-Pick disease (autosomal recessive)
- Deficiency of sphingomyelinase
- Niemann-Pick disease (autosomal recessive)
- Accumulation of sphingomyelin
- Niemann-Pick disease (autosomal recessive)
- Progressive neurodegeneration, developmental delay, cherry-red spot, blindness, lysozymes with onion skin
- Tay-Sachs disease (autosomal recessive)
- Deficiency of hexosaminidase A
- Tay-Sachs disease (autosomal recessive
- Accumulation of GM2 ganglioside
- Tay-Sachs disease (autosomal recessive)
- Deficiency of beta-galactosidase
- Krabbe disease (autosomal recessive)
- Accumulation of galactocerebroside
- Krabbe disease (autosomal recessive)
- Central and peripheral demyelination with ataxia, dementia
- Metachromatic leukodystrophy (autosomal recessive)
- Deficiency of arylsulfatase A
- Metachromatic leukodystrophy (autosomal recessive)
- Accumulation of cerebroside sulfate
- Metachromatic leukodystrophy (autosomal recessive)
- Developmental delay, gargoylism, corneal clouding, progressive mental retardation, HSM, airway obstruction
- Hurler syndrome (autosomal recessive)
- Deficiency of alpha-L-iduronidase
- Hurler syndrome (autosomal recessive)
- Accumulation of heparan sulfate and dermatan sulfate
- Hurler syndrome (autosomal recessive) and Hunter syndrome (X-linked recessive)
- Deficiency of iduronate sulfatase
- Hunter syndrome (X-linked recessive)
- Deficiency of aldolase B
- Fructose intolerance (autosomal recessive) - hypoglycemia, jaundice, cirrhosis
- Deficiency of fructokinase
- Essential fructosuria - benign, asymptomatic
- Accumulation of fructose-1-phosphate
- Fructose intolerance (autosomal recessive)
- Heinz bodies, bite cells, hemolytic anemia
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency
- Deficiency of tyrosinase
- Albinism
- Deficiency of cystathionine synthase and/or methionine synthase
- Homocystinuria - mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation
- Defect of tubular amino acid transporter for cystine, ornithine, lysine, arginine in kidneys
- Cystinuria
- Deficiency of alpha-(1 -->6) glucosidase
- Cori disease (glycogen storage disease type III) - stunted growth, hepatomegaly, hypoglycemia
- Increased chylomicrons
- Type I familial dyslipidemia (hyperchylomicronemia)
- Increased LDL
- Type IIa familial dyslipidemia (hypercholesterolemia)
- Increased LDL, VLDL
- Type IIb familial dyslipidemia (combined hyperlipidemia)
- Increased IDL, VLDL
- Type III familial dyslipidemia (dysbetalipoproteinemia) - altered apolipoprotein E
- Increased VLDL
- Type IV familial dyslipidemia (hypertriglyceridemia) - hepatic overproduction of VLDL
- Increased VLDL, chylomicrons
- Type V familial dyslipidemia (mixed hypertriglyceridemia) - increase production or decreased clearance of VLDL and chylomicrons
- Deficiency in uroporphyrinogen I synthetase
- Acute intermittent porphyria
- Accumulation of porphobilinogen and delta-ALA in urine
- Acute intermittent porphyria
- Deficiency in uroporphyrinogen decarboxylase
- Porphyria cutanea tarda
- Accumulation of uroporphyrin in urine (tea-colored)
- Porphyria cutanea tarda
- Iron in hemoglobin is in Fe3+ (oxidized) state
- Methemoglobinemia
- Beriberi
- Vitamin B1 (thiamine) deficiency
- Wernicke-Korsakoff syndrome
- Vitamin B1 (thiamine) deficiency
- Angular stomatitis, cheilosis, corneal vascularization, glossitis, seborrheic dermatitis
- Vitamin B2 (riboflavin) deficiency
- Pellagra (diarrhea, dermatitis, dementia)
- Vitamin B3 (niacin) + tryptophan deficiency
- Cheilosis, glossitis, anemia, convulsions due to GABA deficiency
- Vitamin B6 (pyridoxine) deficiency
- Megaloblastic anemia
- Vitamin B12 (cobalamin) or folate deficiency
- Scurvy (gingival bleeding, bruising, anemia, poor wound healing)
- Vitamin C (ascorbic acid) deficiency
- Regeneration of methionine is dependent on?
- Vitamin B12
- Glutamate --> GABA via glutamate decaboxylase requires?
- Vitamin B6
- Rate-limiting enzyme of glycolysis
- Phosphofructokinase (converts fructose-6-P to fructose-1,6-bis-P)
- What reactions produce NADPH?
- HMP shunt and malate dehydrogenase reaction
- NADPH is used in:
- Anabolic processes, respiratory burst, P-450
- Irreversible enzymes of gluconeogensis:
- Pyruvate carboxylase, PEP carboxykinase, fructose-1,6-bisphosphatase, glucose-6-phosphatase