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Flashcards in Lysosomal Storage Diseases Deck (17):
1

Galactocerebrosidase deficiency
Myelin sheath involvement
Optic atrophy

Krabbe Disease

2

a- galactosidase deficiency
Angiokeratomas
Renal Failure

Fabry disease

3

Dwarfism
Corneal clouding
a- L iduronidase deficiency

Hurler Syndrome

4

Thrombocytopenia
Macrophages with cytoplasmic fibrils
Glucocerebrosidase deficiency

Gaucher disease

5

Cherry red spot on macula
No hepatosplenomegaly
Hexosaminidase A deficiency

Tay-Sachs

6

Aggressive behavior
No corneal clouding
Iduronate sulfatase deficiency

Hunter Syndrome

7

Progressive vision loss and dementia
Similar to Krabbe
Arylsulfatase deficiency

Metachromatic leukodystrophy

8

Cherry red spot on macula
Foam cells
Spingomyelinase deficiency

Neimann- Pick Disease

9

What are the X-linked recessive Disorders

Oblivious Female Will Often Give Her Boys Her X-Linked Disorders

Ornithine transcarbamylase deficiency
Fabry disease
Wiskott Aldrich syndrome
Ocular albinism
G6PD deficiency
Hunter syndrome
Bruton agammaglobulinemia
Hemophilia A and B
Lesch-Nyhan Syndrome
Duchenne (and Becker)

10

What gene is defective in Cystic Fibrosis on what chromosome?

CFTR gene on chromosome 7

11

What lysosomal storage disease has prominent cytoplasmic fibrils that resemble crumpled tissue paper?

Gaucher disease

12

Which two lysosomal storage disease have myelin sheath pathology leading to peripheral neuropathy?

Krabbe disease
Metachromatic Leukodystrophy

13

What is deficient enzyme and protein that builds up in Fabry disease

Deficient enzyme: Alpha- galactosidase leading to accumulation of ceramide trihexoside

14

Deficient enzyme: Alpha- galactosidase leading to accumulation of ceramide trihexoside
Pain (damage to peripheral nerve), renal failure, hypertension, cardiomypathy, angiokeratoma

Fabry Disease

15

What is deficient enzyme in Gaucher Disease

Glucocerebrosidase leading to accumulation of glucocerebroside

16

Hepatosplenomegaly, painful bony lesions, anemia, fatigue and thrombocytopenia
Prominent blue cytoplasmic fibrils (crumpled tissue paper)

Gaucher Disease

17

What is deficient enzyme and accumulated protein in Neimann- Pick disease

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