Lysosomal Storage Diseases Flashcards
Deficiency of alpha-galactosidase A
Fabry
Fabry disease leads to an accumulation of
ceremide trihexoside
What are the only two lysosomal storage diseases that are X-linked recessive?
Fabry disease and Hunter Syndrome (Hunters aim for the X)
What is the most common sphingolipidosis?
Gaucher disease
Gaucher disease is caused by a deficiency in
glucocerebrosidase
In Gaucher disease there is an accumulation of
glucocerebroside
What are the symptoms of gaucher disease?
- Hepatosplenomegaly
- Aseptic necrosis of femur
- Gaucher cells (macrophages look like crumpled tissue paper)
Progressive neurodegeneration, foam cells and a cherry red spot on the macula?
Neimann-Pick disease
Deficiency in Neimann-Pick? Accumulation of?
Deficiency of sphingomyelinase leading to an accumulation of sphingomyelin
What is the major diference between the presenation of neimann-pick and Tay-Sachs?
NO HEPATOSPLENOMEGALY in Tay-Sachs
Deficiency of Hexosamidase A leads to an accumulation of what substrate?
GM2-Ganglioside
Deficiency of galactocerebrosidase leading to a buildup of galactocerebroside
Krabbe disease
Sx of Krabbe disease
- peripheral neuropathy
- developmental delay
- Optic atrophy
- Globoid cells
Peripheral demyelination with ataxia
metochromatic leukodystrophy
Arylsulfatase A deficiency leads to an accumulation of what substrate?
cerebroside sulfate
