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66 Cards in this Set

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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