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Biochem Shit I Keep Forgetting Flashcards

1
Q

What diseases presents w/accumulation of dextrin-like structures in cytosol?

A

Cori disease

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2
Q

What disease presents w/hypoglycemia, jaundice, cirrhosis, vomiting following ingestion of juice or honey?

A

Fructose intolerance

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3
Q

What diseases presents w/central and peripheral demyelination w/ataxia, dementia?

A

Metachromatic leukodystrophy

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4
Q

Classic galactosemia can predispose to what?

Tx?

A

E coli sepsis in neonates

Exclude galactose and lactose

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5
Q

What diseases presents w/developmental delay, gargolyism, airway obstruction, corneal clouding, HSM?

A

Hurler

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6
Q

Build up of GM2 ganglioside in what disease?

A

Tay-Sachs

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7
Q

Defect of Hexoaminidase A in what disease?

A

Tay Sachs

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8
Q

What diseases presents w/HSM, pancytopenia, osteoporosis?

What special feature?

A

Gaucher

AVN of femur

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9
Q

Enzyme defect in essential fructosuria?

Inheritance?

A

Fructokinase

AR

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10
Q

Build up of Cerebroside sulfate in what disease?

A

Metachromatic leukodystrophy

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11
Q

What diseases presents w/painful muscle cramps, myoglobinuria w/strenuous exercise, and arrhythmias?

A

McArdle

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12
Q

What diseases presents w/failure to thrive, jaundice, HM, cataracts, mental retard?

A

Classic galactosemia

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13
Q

What diseases presents w/fructose in the blood and urine?

A

Essential fructosuria

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14
Q

What enzyme defect in classic galactosemia?

A

G1PUT

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15
Q

What diseases presents w/progressive neurodegeneration, cherry red spot and no HSM?

A

Tay Sachs

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16
Q

What diseases presents w/episodic peripheral neuropathy, angiokeratomas, hypohidrosis?

17
Q

Defect of Glucoserebrosidase in what disease?

18
Q

Build up of Galactocerebroside, psychosine in what disease?

19
Q

Build up of Glucocerebroside in what disease?

20
Q

What diseases presents w/inhibition of glycogenolysis and gluconeogenesis?

A

Fructose intolerance

21
Q

Build up of Ceramide Trihexoside in what disease?

A

Fabry disease

22
Q

What diseases presents w/progressive neurodegeneration, HSM, foam cells, cherry red spot?

A

Niemann Pick

23
Q

What diseases presents w/galactosemia and galactosuria, infantile cataracts?

A

Galactokinase deficiency

24
Q

What diseases presents w/peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, and globoid cells?

25
Q

Defect of Arylsufatase A in what disease?

A

Metachromatic leukodystrophy

26
Q

What are the late stage manifestations of Fabry disease?

A

Renal failure

Cardiovascular disease - TIA, stroke, LVH

27
Q

Enzyme defect in fructose intolerance?

A

Aldolase B

28
Q

What diseases presents w/severe fasting hypoglycemia, increased glycogen in liver, lactate, TGs, uric acid and HM?

A

Von Gierke

29
Q

Defect of alpha-galactosidase A in what disease?

30
Q

Defect of Galactocerebrosidase in what disease?

(Other) Board Prep (19 decks)

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