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Biochemistry > Lysosomal Storage Disorder > Flashcards

Lysosomal Storage Disorder Flashcards

1
Q

Most common lysosomal storage disorder

A

Gaucher’s disease

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2
Q

Gaucher’s disease

A

Glucocerebrosidase (beta-glucosidase)
Glucosylceramide
Hepatosplenomegaly + erosion of long bones

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2
Q

Fabry disease

A

Alpha-galactosidase A

Ceramide trihexoside

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3
Q

Fabry disease

A

Alpha-galactosidase A

alpha-galactoside/ ceramide trihexoside

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4
Q

MPS II

Hunter

A

Iduronosulfate sulfatase

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6
Q

MPS without corneal clouding

A

MPS II

Hunter

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7
Q

More severe MPS

A

MPS I

Hurler

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8
Q

Glycogen Storage Disease: liver enlargement

A

III

Cori

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9
Q

All MPS are autosomal recessive except

A

MPS II
Hunter syndrome
X-linked recessive

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10
Q

Sulfatidoses: Tay Sach

A

Hexosaminidase-alpha
Ganglioside
Cherry red macula

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11
Q

Sulfatidoses: Nieman Pick

A

Sphingomyelinase
Sphingomyelin
Hepatosplenomegaly

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12
Q

Glycogen Storage Disease Type I

Von Gierke

A

Glucose 6-phosphate

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13
Q

Glycogen Storage Disease Type II

Pompe

A

Alpha-1,4-glucosidase

Glycogen

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14
Q

Glycogen Storage Disease Type III

Cori

A

Glycogen debranching enzyme

Mild hypoglycemia
Hepatomegaly

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15
Q

Glycogen Storage Disease Type V

McArdle

A

Muscle glycogen phosphorylase

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16
Q

Glycogen Storage Disease:
Liver and kidneys
Severe hypoglycemia

A

Type I

Von Gierkes

17
Q

Glycogen Storage Disease: Muscle only

A

Type V

McArdle

18
Q

Glycogen Storage Disease:
Heart, liver and muscle
Cardiomegaly

A

Type II

Pompe

19
Q

Krabbe disease

A

beta-galactosidase

mental retardation

20
Q

Fabry’s disease

A

alpha-galactosidase
globotriaosylceramide
X-linked recessive, renal failure

21
Q

true or false: [MPS] Morquio’s syndrome (+) CNS involvement

A

false

Biochemistry (11 decks)

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