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USMLE > Biochemistry > Flashcards

Biochemistry Flashcards

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USMLE® Step 1 flashcards
1
Q

Von Gierke’s disease

A

Type 1 Glycogen storage disease

Deficient in glucose 6 phosphatase -> severe fasting hypoglycemia, Increased glycogen in liver (hepatomegaly), increase blood lactate

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2
Q

Pompe’s Disease

A

Type 2 Glycogen storage disease

Deficient lysosomal a-1,4 glucosidase (acid maltase)

Cardiomegaly and systemic findings -> early death

“pompe’s trash the pump (heart, liver, muscle)”

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3
Q

Cori’s Disease

A

Type 3 Glycogen storage disease

Deficient debranching enzyme (a-1,6 glucosidase)

Milder form of type 1 with normal blood lactate (gluconeogensis intact)

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4
Q

McArdle’s disease

A

Type 5 Glycogen storage disease

Deficient in muscle glycogen phosphorylase -> Increase glycogen in muscle (cannot break it down) -> painful muscle cramps, myoglobinuria with strenuous exercise

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5
Q

Rate limiting enzyme: glycolysis

A

PFK-1

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6
Q

Rate limiting enzyme: Gluconeogenesis

A

Fructose 1,6 bisphosphatase

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7
Q

Rate limiting enzyme: TCA

A

Isocitrate dehydrogenase

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8
Q

Rate limiting enzyme: Glycogen synthesis

A

Glycogen synthetase

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9
Q

Rate limiting enzyme: glycogenolysis

A

Glycogen phosphorylase

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10
Q

Rate limiting enzyme: HMP shunt (pentose phosphate pathway)

A

Glucose-6-phosphate dehydrogenase

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11
Q

Rate limiting enzyme: De novo pyrimidine synthesis

A

Carbamoyl phsphate synthetase II

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12
Q

Rate limiting enzyme: De novo purine synthesis

A

Gluatmine-PRPP synthetase

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13
Q

Rate limiting enzyme: Urea cycle

A

CPS-1

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14
Q

Rate limiting enzyme: Fatty Acid synthesis

A

Acetyl-CoA carboxylase

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15
Q

Rate limiting enzyme: Fatty Acid Oxidation

A

Carnitine acyl-transferase 1

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16
Q

Rate limiting enzyme: ketogenesis

A

HMG-CoA synthase

17
Q

Rate limiting enzyme: Cholesterol Synthesis

A

HMG-CoA reductase

18
Q

Quad screen of Trisomy 21

A

Decrease AFP

Increase B-hCG

Decrease Estriol

Increase Inhibin A

US - Increase nuchal translucency

19
Q

Quad screen of Trisomy 13

A

Decrease AFP

Decreaese B-hCG

Decrease estriol

Normal Inhibin A

20
Q

Quad screen of Trisomy 18

A

Decrease B-hCG

Decrease PAPP-A

Increase nuchal translucency

21
Q

Characteristics of Downs (Trisomy 21)

A

Mental retardation, flat facies, prominent epicanthal folds, simian crease, gap between toes, duodenal atresia, congenital heart disease (ASD)

22
Q

Characteristics of Edwards (Trisomy 18)

A

Mental retardation, Rocker bottom feet, micrognathia, low-set Ears, clenched hands, prominent occiput, congenital heart disease

23
Q

Characteristics of Patau (Trisomy 13)

A

Mental retardation, rocker bottom feet, microphthalmia, microcephaly, cleft liP/_P_alate, holoProsencephaly, Polydactyly, congenital heart disease

24
Q

Fabry’s disease

Defective enzyme

findings

Accumulated substance

A

Defective enzyme: a-galatosidase A (X-linked recessive)

Findings: Peripheral neuropathy of hands, feet, angiokeratoma, cardiovascular/renal disease

Accumulated: Ceramide trihexoside

25
Q

Gaucher’s disease

Defective enzyme

Findings

Accumulaiton

A

Defective enzyme: B-glucocerebrosidase (Autosomal recessive)

Findings: RBC dying off -> accmulate in liver, spleen, bone.
Hepatosplenomegaly, aseptic necrosis of femur, macorphage looks like crumped paper

Accumulaiton: Glucocerebroside

26
Q

Niemann-Pick

Defective enzyme

Findings

Accumulaiton

A

Defective enzyme: sphingomyelinase

Findings: Progressive neurodengeneration, hepatospelnomegaly, cherry-red spot on macula, foam cells

Accumulaiton: sphingomyelin

27
Q

Tay-Sachs Disease

Defective enzyme

Findings

Accumulaiton

A

Defective enzyme: HeXominadase A in Tay-SaX

Findings: Progressive neurodegneration, developmental delay, cherry-red spot on macula, lysosomes with onion skin, no hepatosplenomegaly (vs. Niemann Pick)

Accumulaiton: GM2 ganglioside (build up in ganglion)

28
Q

Krabbe’s disease

Defective enzyme

Findings

Accumulaiton

A

Defective enzyme: Galactocerebrosidase

Findings: Peripheral neuropathy, developmental delay, optic atrophy, globoid cells

Accumulaiton: Galactocerebrosidase

29
Q

Metachromatic leukodystrophy

Defective enzyme

Findings

Accumulaiton

A

Defective enzyme: Arysulfatase A

Findings: Central and peripheral demyelination with ataxia, dementia

Accumulaiton: Cerebroside sulfate

30
Q

Hurler’s disease

Defective enzyme

Findings

Accumulaiton

A

Defective enzyme: a-L-iduronidase in HurLer

Findings: Developmental delay, gargoylism, airway obstruction, corneal clouding

Accumulaiton: Heparan sulfate

31
Q

Hunter’s disease

Defective enzyme

Findings

Accumulaiton

A

Defective enzyme: Iduronate sulfatase (X-linked recessive)

Findings: Mild hurler’s, aggressive behavior, no corenal clouding

Accumulation: Heparan sulfatate

32
Q

Vimentin stains for?

A

Connective tissue (sarcoma, some carcinoma)

33
Q

Desmin stains for?

A

Muscles (rhabdomyosarcoma, leiomyomas)

34
Q

Cytokeratin stains for?

A

Epithelial cells (carcinomas)

35
Q

GFAP stains for?

A

Neuroglia

36
Q

Neurofilaments stains for?

A

Neurons (adrenal renal blastomas, primitive ectodermal tumor)

USMLE (8 decks)

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