Flashcards in Lysosomal Storage Diseases Deck (23):
Deficiency of alpha-galactosidase A
Fabry disease leads to an accumulation of
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 is caused by a deficiency in
In Gaucher disease there is an accumulation of
What are the symptoms of gaucher disease?
-Aseptic necrosis of femur
-Gaucher cells (macrophages look like crumpled tissue paper)
Progressive neurodegeneration, foam cells and a cherry red spot on the macula?
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?
Deficiency of galactocerebrosidase leading to a buildup of galactocerebroside
Sx of Krabbe disease
Peripheral demyelination with ataxia
Arylsulfatase A deficiency leads to an accumulation of what substrate?
What are the two mucopolysaccharidoses?
Hunter and Hurler syndrome
What is the most telling difference between hunter and hurler syndrome?
Hunter syndrome presents with no corneal clouding
Hurler syndrome presents WITH corneal clouding
What is deficient in Hurler syndrome?
Deficiency of alpha-L-iduronidase leads to an accumulation of what substrate?
Heparan sulfate and dermatan sulfate
What are the Sx of hurler syndrome?
What is deficient in hunter syndrome
Leads to the buildup of the same as Hunter syndrome--> heparan sulfate and darmatan sulfate
Two diseases with cherry red spot on macula?
Tay-Sachs--> No hepatosplenomegaly