Lysosomal Storage Disease (LSD)

Question 1

Fabry disease

Answer 1

XLR
- α-Galactosidase A deficiency
- Globotriaosylceramide accumulation

Presents with:
- Angiokeratomas
- Peripheral neuropathy
- Glomerulopathy

Question 2

Tay-Sachs disease

Answer 2

AR
- β-Hexosaminidase A deficiency
- GM2 (ganglioside) accumulation

Presents with:
- Macular cherry-red spot
- Progressive neurodegeneration

Question 3

Gaucher’s disease

Answer 3

AR
- β-Glucocerebrosidase deficiency
- Glucocerebroside accumulation

Presents with:
- Hepatosplenomegaly
- Pancytopenia
- Bone pain/osteopenia

Question 4

Niemann-Picks disease

Answer 4

AR
- Sphingomyelinase deficiency
- Sphingomyelin accumulation

Presents with:
- Macular cherry-red spot
- Progressive neurodegeneration
- Hepatosplenomegaly

Question 5

Krabbe’s disease

Answer 5

AR
- Glucocerebrosidase deficiency
- Glucocerebroside & psychosine accumulation

Presents with:
- Progressive neurodegeneration
- Peripheral neuropathy
- Optic atrophy

Question 6

Metachromatic leukodystrophy

Answer 6

AR
- Arylsulfatase A deficiency
- Cerebroside sulfate accumulation

Presents with:
- Progressive neurodegeneration
- Peripheral neuropathy

Question 7

Hurler Syndrome

Answer 7

• AR
• Corneal Clouding
• Enzyme deficiency of Alpha-L-Idouronidase
• Accumulation of Iduronate

Common symptoms in Hurler, Hunter Syndromes and I-cell disease:
- Skeletal deformations, Bone deformity
- Cardiomyopathy
- Thickened heart valves
- Gargoylism

Question 8

Hunter Syndrome

Answer 8

• XLR
• No corneal clouding (Hunters can see)
• Enzyme deficiency is Iduronase Sulfatase
• Accumulation of Iduronate

” Hunters can see and are Aggressive “

Common symptoms in Hurler, Hunter Syndromes and I-cell disease:
- Skeletal deformations, Bone deformity
- Cardiomyopathy
- Thickened heart valves
- Gargoylism

Question 9

I-Cell disease

Answer 9

• AKA Inclusion Disease
• Corneal Clouding
• Failure to thrive
• Deficiency of N-acetyl glucosamine 1 phosphotransferase
• Sphingolipid & Mucopolysaccharide accumulation in lysosomes

Common symptoms in Hurler, Hunter Syndromes and I-cell disease:
- Skeletal deformations, Bone deformity
- Cardiomyopathy
- Thickened heart valves
- Gargoylism