Lysosomal Storage Diseases

Question 1

Fabry disease

Answer 1

• Early: peripheral neuropathy, angiokeratomas, hypohidrosis
• Late: progressive renal failure, cardiovascular disease
• Deficiency of alpha-galactosidase A
• Accumulation of ceramide trihexoside
• XR

Question 2

Gaucher disease

Answer 2

• Most Common
• Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises
• Gaucher cells: lipid laden macrophages resembling crumpled tissue paper
• Deficient glucocerebosidase
• Accumulation of glucocerebroside
• AR

Question 3

Niemann-Pick disease

Answer 3

• Progressive neurodegeneration, HSM, foam cells (lipid-laden macrophages), cherry red spot on macula
• Sphingomyelinase deficiency
• Sphingomyelin accumulation
• AR

Question 4

Tay-Sachs disease

Answer 4

• Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, no HSM
• Hexosaminidase A deficiency
• GM2 ganglioside accumulation
• AR

Question 5

Krabbe disease

Answer 5

• Peripheral neuropathy, developmental delay, optic atrophy, globoid cells
• Galactocerebrosidase deficiency
• Galactocereboside, psychosine accumulation
• AR

Question 6

Metachromatic leukodystrophy

Answer 6

• Central and peripheral demyelination with ataxia, dementia
• Arylsulfatase A deficiency
• Cerebroside sulfate accumulation
• AR

Question 7

Hurler syndrome

Answer 7

• Developmental delay, gargoyles, airway obstruction, corneal clouding, HSM
• alpha-L-iduronase deficiency
• Heparan sulfate, dermatan sulfate accumulation
• AR

Question 8

Hunter syndrome

Answer 8

• Mild Hurler + aggressive behavior, no corneal clouding
• Iduronate sulfatase deficiency
• Heparan sulfate, dermatan sulfate accumulation
• XR