Lysosomal Storage Diseases

Question 1

Early: triad of episodic peripheral neuropathy, angiokeratomas, hypohidrosis
Late: progressive renal failure, CVD
- Deficient in alpha-galactosidase A
- Ceramide trihexoside builds up
XR

Answer 1

Fabry Disease

Question 2

MOST COMMON
Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femur, bone crises, ____ cells: lipid laden macrophages resembling crumpled tissue paper
- Deficient in glucocerebrosidase (B-glucosidase)
- Build up of glucocerebroside
- AR

Answer 2

Gauchers Disease

Question 3

Progressive neurodegeneration, hepatosplenomegaly, foam cells (lipid laden macrophages), “cherry red spot on macula

• Deficient in sphingomeylinase
• Build up of Sphingomyelin
• AR

Answer 3

Niemann-Pick Disease

Question 4

Progressive neurodegeneration, developmental delay, “cherry red” spot on macula, lysosomes with onion skin, no hepatosplenomegaly

• Deficient in Hexosaminidase A
• GM2 ganglioside accumulates
• AR

Answer 4

Tay-Sachs Disease

Question 5

Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells
- Deficient in galactocerebrosidase
Build up of galactocerebroside, psychosis
- AR

Answer 5

Krabbe Disease

Question 6

Central and peripheral demyelination with ataxia and dementia

• Deficient in Arylsulfatase A
• Cerebroside sulfate builds up
• AR

Answer 6

Metachromatic Leukodystrophy

Question 7

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

• Deficient in alpha-L-iduronidase
• Build up of heparin sulfate, dermatan sulfate
• AR

Answer 7

Hurler Syndrome (mucopolysaccharidoses)

Question 8

Mild Hurler + aggressive behavior, no corneal clouding

• Deficient in Iduronate sulfatase
• Build up of Heparan sulfate, derma tan sulfate
• XR

Answer 8

Hunter Syndrome (mucopolysaccharidoses)