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Step 2 > Glycogen and Lysosomal Storage Diseases > Flashcards

Glycogen and Lysosomal Storage Diseases Flashcards

1
Q

What is glycogen storage disease type I?

A

Von Gierke disease

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2
Q

What is glycogen storage disease type II?

A

Pompe disease

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3
Q

What is glycogen storage disease type III?

A

Cori disease

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4
Q

What is glycogen storage disease type V?

A

McArdle disease

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5
Q

What is the inheritance pattern for the glycogen storage diseases?

A

Autosomal Recessive

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6
Q

Severe fasting hypoglycemia with increased glycogen in the liver, hepatomegaly and increased blood lactate

A

Von Gierke disease

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7
Q

What is the deficient enzyme in Von Gierke disease?

A

Glucose-6-phosphatase, which catalyzes the last step of both glycogenolysis and gluconeogenesis

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8
Q

What is the treatment for Von Gierke disease?

A

Frequent oral glucose or cornstarch + Avoidance of fructose and galactose

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9
Q

Cardiomyopathy leading to early death

A

Pompe disease

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10
Q

What is the deficient enzyme in Pompe disease?

A

Lysosomal alpha-1,4-glucosidase

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11
Q

Mild fasting hypoglycemia with increased glycogen in the liver, hepatomegaly, and normal blood lactate levels

A

Cori diease

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12
Q

What is the defective enzyme in Cori disease?

A

Debranching enzyme (Alpha-1,6-glucosidase)

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13
Q

Increased glycogen in the muscle which is not utilized, painful muscle cramps, myoglobinuria with exercise and arrhythmia

A

McArdle disease

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14
Q

What is the defective enzyme in McArdle disease?

A

Skeletal muscle glycogen phosphorylase

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15
Q

Name the 6 sphingolipidoses

A
  1. Fabry disease
  2. Gaucher diease
  3. Niemann-Pick disease
  4. Tay-Sachs disease
  5. Krabbe disease
  6. Metachromatic leukodystrophy
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16
Q

Name the 2 mucopolysaccharidoses

A
  1. Hurler syndrome

2. Hunter syndrome

17
Q

How are the sphingolipidoses and mucopolysaccharidoses inherited?

A

Autosomal recessive except: Fabry and Hunter are X-linked recessive

18
Q

Painful peripheral neuropathy of hands and feet, angiokeratomas (tiny painless papules on the butt and goin), cardiovascular disease leading to GI ischemia and renal failure

A

Fabry disease

19
Q

What is the defective enzyme in Fabry disease?

A

Alpha-galactosidase A

20
Q

What is the accumulated substrate in Fabry disease?

A

Ceramide trihexoside

21
Q

Hepatosplenomegaly, pancytopensia, necrosis of the femur and lipid-laden macrophages

A

Gaucher disease

22
Q

What is the defective enzyme in Gaucher disease?

A

Glubocerebrosidase

23
Q

What is the accumulated substrate in Gaucher disease?

A

Glucocerebroside

24
Q

Progressive decline in cognitive and motor function, hepatoslenomegaly, “cherry red spot” on the macula, foam cells

A

Niemann-Pick disease

25
Q

What is the defective enzyme in Niemann-Pick disease?

A

Sphingomyelinase

26
Q

What is the accumulated substrate in Niemann-Pick disease?

A

Sphingomyelin

27
Q

Progressive decline in cognitive and motor function, “cherry red spot” on the macula, onion skin lysosomes

A

Tay-Sachs diease

28
Q

What is the defective enzyme in Tay-Sachs disease?

A

Hexosaminidase A

29
Q

What is the accumulated substrate in Tay-Sachs disease?

A

GM2 ganglioside

30
Q

Peripheral neuropathy, seizures, developmental delays, optic atrophy and globoid cells

A

Krabbe disease

31
Q

What is the defective enzyme in Krabbe disease?

A

Galactocerebrosidase

32
Q

Central and peripheral demyelination with ataxia and dementia

A

Metachromatic leukodystrophy

33
Q

Developmental delays, airway obstruction, corneal clouding, hepatosplenomegaly

A

Hurler syndrome

34
Q

What is the defective enzyme in Hurler syndrome?

A

Alpha-L-iduronidase

35
Q

What accumulates in Hurler syndrome?

A

Heparan sulfate, dermatan sulfate

36
Q

Mild developmental delays, hepatosplenomegaly and aggressive behavior

A

Hunter syndrome

37
Q

What is the defective enzyme in Hunter syndrome?

A

Iduronate sulfatase

38
Q

What accumulates in Hunter syndrome?

A

Heparan sulfate, dermatan sulfate

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