Lysosomal storage disease Flashcards
Which lysosomal storage disease is associated with renal failure
Fabry’s disease (treat with dialysis)
What are the only two X-linked recessive lysosomal storage diseases? What is the method of inheritance of the others?
Fabry’s and Hunter’s
Autosomal recessive.
What is the most common lysosomal storage disease?
Gaucher’s disease
Which 3 lysosomal storage diseases are associated with an early death (usually by age 3)
Tay Sachs
Niemann Pick
Krabbe’s disease
Which lysosomal storage disease is a demyelinating disease?
Metachromatic leukodystrophy
How might corneal clouding and mental retardation help distinguish between the mucopolysaccharidases? Hurler's Hunter's Scheie's (I-cell)
Hurler’s: corneal clouding and retardation
Hunter’s: retardation only
Scheie’s: corneal clouding only
(I-cell): clouding, with or without retardation (deficiency in mannose phosphorylation; death by age 6)
Which lysosomal storage disease is characterized by a deficiency in alpha-L-iduronidase
Hurler’s and Scheie’s
Which lysosomal storage disease is characterized by a deficiency in iduronate sulfatase
Hunter’s
Which lysosomal storage disease is characterized by a deficiency in arylsulfatase A
metachromatic leukodystrophy
Which lysosomal storage disease is characterized by a deficiency in alpha-galactosidase A
Fabry’s disease
Which lysosomal storage disease is characterized by a deficiency in Galactocerebrosidase (leading to galactocerebroside accumulation)
Crabie’s disease
Which lysosomal storage disease is characterized by a deficiency in beta-glucocerebrosidase (leading to glucocerebroside accumulation)
Gaucher’s disease
Which lysosomal storage disease is characterized by a deficiency in hexosaminidase
Tay-Sach’s
Which lysosomal storage disease is characterized by a deficiency in sphingomyelinase (leading to sphingomyelin accumulation)
Niemann-Pick’s disease
Characterized by an accumulation of GM2 ganglioside
Tay-Sach’s
