Usmle Biochem Crap

Front 1

Self-mutilation, gout, choreiform movements, mental retardation

Back 1

Lesch-Nyhan syndrome (X-linked recessive)

Front 2

HGPRT deficiency

Back 2

Lesch-Nyhan syndrome (X-linked recessive)

Front 3

Adenosine deaminase deficiency

Back 3

SCID

Front 4

Deficiency of branched-chain alpha-ketoacid dehydrogenase

Back 4

Maple syrup urine disease (autosomal recessive)

Front 5

Accumulation of leucine, isoleucine and valine in blood

Back 5

Maple syrup urine disease (autosomal recessive)

Front 6

Deficiency of homogentisic acid oxidase

Back 6

Alkaptonuria (autosomal recessive)

Front 7

Urine turns black on standing; darkened tympanic membrane; arthralgias

Back 7

Alkaptonuria (autosomal recessive)

Front 8

Deficiency of phenylalanine hydroxylase

Back 8

Phenylketonuria

Front 9

Deficiency of glucose 6-phosphate

Back 9

von Gierke disease (glycogen storage disease type I)

Front 10

Deficiency of lysosomal alpha (1 -->4) glucosidase

Back 10

Pompe disease (glycogen storage disease type II)

Front 11

Deficiency of skeletal muscle glycogen phosphorylase

Back 11

McArdle disease (glycogen storage disease type V)

Front 12

Deficiency of galactose 1-phosphate uridyltransferase

Back 12

Classic galactosemia

Front 13

Accumulation of galactitol (converted from galactose via aldose reductase)

Back 13

Classic galactosemia

Front 14

Angiokeratomas, renal failure, peripheral neuropathy

Back 14

Fabry disease (X-linked recessive)

Front 15

Deficiency of alpha-galactosidase A

Back 15

Fabry disease (X-linked recessive)

Front 16

Accumulation of ceramide trihexoside

Back 16

Fabry disease (X-linked recessive)

Front 17

Hepatosplenomegaly, aseptic necrosis of femur, bone crises, wrinkled tissue paper appearance to cytoplasm of macrophages

Back 17

Gaucher disease (autosomal recessive)

Front 18

Deficiency of beta-glucocerebrosidase

Back 18

Gaucher disease (autosomal recessive)

Front 19

Accumulation of glucocerebroside

Back 19

Gaucher disease (autosomal recessive)

Front 20

Progressive neurodegeneration, HSM, cherry-red spot on macula, foamy histiocytes

Back 20

Niemann-Pick disease (autosomal recessive)

Front 21

Deficiency of sphingomyelinase

Back 21

Niemann-Pick disease (autosomal recessive)

Front 22

Accumulation of sphingomyelin

Back 22

Niemann-Pick disease (autosomal recessive)

Front 23

Progressive neurodegeneration, developmental delay, cherry-red spot, blindness, lysozymes with onion skin

Back 23

Tay-Sachs disease (autosomal recessive)

Front 24

Deficiency of hexosaminidase A

Back 24

Tay-Sachs disease (autosomal recessive

Front 25

Accumulation of GM2 ganglioside

Back 25

Tay-Sachs disease (autosomal recessive)

Front 26

Deficiency of beta-galactosidase

Back 26

Krabbe disease (autosomal recessive)

Front 27

Accumulation of galactocerebroside

Back 27

Krabbe disease (autosomal recessive)

Front 28

Central and peripheral demyelination with ataxia, dementia

Back 28

Metachromatic leukodystrophy (autosomal recessive)

Front 29

Deficiency of arylsulfatase A

Back 29

Metachromatic leukodystrophy (autosomal recessive)

Front 30

Accumulation of cerebroside sulfate

Back 30

Metachromatic leukodystrophy (autosomal recessive)

Front 31

Developmental delay, gargoylism, corneal clouding, progressive mental retardation, HSM, airway obstruction

Back 31

Hurler syndrome (autosomal recessive)

Front 32

Deficiency of alpha-L-iduronidase

Back 32

Hurler syndrome (autosomal recessive)

Front 33

Accumulation of heparan sulfate and dermatan sulfate

Back 33

Hurler syndrome (autosomal recessive) and Hunter syndrome (X-linked recessive)

Front 34

Deficiency of iduronate sulfatase

Back 34

Hunter syndrome (X-linked recessive)

Front 35

Deficiency of aldolase B

Back 35

Fructose intolerance (autosomal recessive) - hypoglycemia, jaundice, cirrhosis

Front 36

Deficiency of fructokinase

Back 36

Essential fructosuria - benign, asymptomatic

Front 37

Accumulation of fructose-1-phosphate

Back 37

Fructose intolerance (autosomal recessive)

Front 38

Heinz bodies, bite cells, hemolytic anemia

Back 38

Glucose-6-phosphate dehydrogenase (G6PD) deficiency

Front 39

Deficiency of tyrosinase

Back 39

Albinism

Front 40

Deficiency of cystathionine synthase and/or methionine synthase

Back 40

Homocystinuria - mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation

Front 41

Defect of tubular amino acid transporter for cystine, ornithine, lysine, arginine in kidneys

Back 41

Cystinuria

Front 42

Deficiency of alpha-(1 -->6) glucosidase

Back 42

Cori disease (glycogen storage disease type III) - stunted growth, hepatomegaly, hypoglycemia

Front 43

Increased chylomicrons

Back 43

Type I familial dyslipidemia (hyperchylomicronemia)

Front 44

Increased LDL

Back 44

Type IIa familial dyslipidemia (hypercholesterolemia)

Front 45

Increased LDL, VLDL

Back 45

Type IIb familial dyslipidemia (combined hyperlipidemia)

Front 46

Increased IDL, VLDL

Back 46

Type III familial dyslipidemia (dysbetalipoproteinemia) - altered apolipoprotein E

Front 47

Increased VLDL

Back 47

Type IV familial dyslipidemia (hypertriglyceridemia) - hepatic overproduction of VLDL

Front 48

Increased VLDL, chylomicrons

Back 48

Type V familial dyslipidemia (mixed hypertriglyceridemia) - increase production or decreased clearance of VLDL and chylomicrons

Front 49

Deficiency in uroporphyrinogen I synthetase

Back 49

Acute intermittent porphyria

Front 50

Accumulation of porphobilinogen and delta-ALA in urine

Back 50

Acute intermittent porphyria

Front 51

Deficiency in uroporphyrinogen decarboxylase

Back 51

Porphyria cutanea tarda

Front 52

Accumulation of uroporphyrin in urine (tea-colored)

Back 52

Porphyria cutanea tarda

Front 53

Iron in hemoglobin is in Fe3+ (oxidized) state

Back 53

Methemoglobinemia

Front 54

Beriberi

Back 54

Vitamin B1 (thiamine) deficiency

Front 55

Wernicke-Korsakoff syndrome

Back 55

Vitamin B1 (thiamine) deficiency

Front 56

Angular stomatitis, cheilosis, corneal vascularization, glossitis, seborrheic dermatitis

Back 56

Vitamin B2 (riboflavin) deficiency

Front 57

Pellagra (diarrhea, dermatitis, dementia)

Back 57

Vitamin B3 (niacin) + tryptophan deficiency

Front 58

Cheilosis, glossitis, anemia, convulsions due to GABA deficiency

Back 58

Vitamin B6 (pyridoxine) deficiency

Front 59

Megaloblastic anemia

Back 59

Vitamin B12 (cobalamin) or folate deficiency

Front 60

Scurvy (gingival bleeding, bruising, anemia, poor wound healing)

Back 60

Vitamin C (ascorbic acid) deficiency

Front 61

Regeneration of methionine is dependent on?

Back 61

Vitamin B12

Front 62

Glutamate --> GABA via glutamate decaboxylase requires?

Back 62

Vitamin B6

Front 63

Rate-limiting enzyme of glycolysis

Back 63

Phosphofructokinase (converts fructose-6-P to fructose-1,6-bis-P)

Front 64

What reactions produce NADPH?

Back 64

HMP shunt and malate dehydrogenase reaction

Front 65

NADPH is used in:

Back 65

Anabolic processes, respiratory burst, P-450

Front 66

Irreversible enzymes of gluconeogensis:

Back 66

Pyruvate carboxylase, PEP carboxykinase, fructose-1,6-bisphosphatase, glucose-6-phosphatase