Lysosomal Storage Deficiency Flashcards
It is a condition where 💡spingomyelin accumulates in the brain, liver & spleen due to deficiency of 💡spingomyelinase.
Niemann-Pick disease
What is the enzyme deficiency in Niemann-Pick disease?
Spingomyelinase
In Krabbe disease, what is the enzyme deficient?
Galactocerebrosidase (GALC)
Accumulation of galactocerebroside in the 💡white matter of the brain
Destroys the protective coating 💡(myelin) of nerve cells in the brain and throughout the nervous system
Krabbe disease
In metachromatic leukodystrophy disease, what is the enzyme deficient?
Arylsulfatase A (ARSA)
It is caused by an accumulation of galactosylceramide-3-O-sulfate (sulfatide) in the 💡central and peripheral nervous systems.
○ Accumulation of galactosylceramide-3-O-sulfate (sulfatide) in the 💡central and peripheral nervous systems.
In Gaucher disease, what is the enzyme deficient?
Glucocerebrosidase
It is caused by an accumulation of glucocerebrosides in the liver and spleen of patients
Gaucher disease
In Fabry disease, what is the enzyme deficient?
Alpha-galactosidase A (a-Gal A)
It is caused by an accumulation of ceramide trihexoside (globotriaosylceramide) in the liver and spleen of patients
Fabry disease
It is caused by an accumulation of GM1
Generalized gangliosidosis
In Tay Sach’s disease, what is the enzyme deficient?
Hexosaminidase A
