Lysosomal storage Diseases

Question 1

What is the issue in Tay-Sachs?

Answer 1

AR 15q leads to defective/deficiency of Hexosaminidase A

Question 2

What accumulates in Tay-Sachs?

Answer 2

Ganglioside

Question 3

How does Tay-Sachs present?

Answer 3

Cherry red macula
Intellectual disability and developmental delay
death by age 2

Question 4

What is the issue in Gaucher Disease?

Answer 4

AR Chr 1: B-glucocerebrosidase is deficient/defective

Question 5

What accumulates in Gaucher Disease?

Answer 5

Glucocerebroside

Question 6

How does Gaucher Disease Present?

Answer 6

Hepatosplenomegaly
Aseptic necrosis of the femur
lytic lesions
Macrophages that look like crumpled paper due to fibrillary cytoplasm

Question 7

What is the issue in Krabbe disease?

Answer 7

AR deficiency/defect in Galactocerebrosidase

Question 8

What accumulates in Krabbe disease?

Answer 8

Galactocerebroside

Question 9

How does Krabbe Disease present?

Answer 9

Optic atrophy and developmental delay

Question 10

What is the issue in Fabry Disease?

Answer 10

XLR: Deficiency/defect of Alpha-galactosidase A

Question 11

What accumulates in Fabry?

Answer 11

Ceramide Trihexoside

Question 12

How does Fabry present?

Answer 12

Peripheral neuropathy of hands/feet

Question 13

What is the issue in Niemann-Pick Disease?

Answer 13

AR Chr 11p Defect/deficiency of Sphingomyelinase

Question 14

What accumulates in Niemann-Pick?

Answer 14

Sphingomyelin

Question 15

How does Niemann-Pick present?

Answer 15

Cherry red macula
Neurodegeneration
Hepatosplenomegaly
Foam Cells: foamy vacuolated macrophages in marrow

Question 16

What is the issue in Metachromatic Leukodystrophy?

Answer 16

AR defect/deficiency of Arylsulfatase A

Question 17

What accumulates in Metachromatic Leukodystorphy?

Answer 17

Cerebroside Sulfate

Question 18

How does Metachromatic Leukodystrophy present?

Answer 18

Demyelination with ataxia and dementia