Lysosomal Storage Diseases Flashcards
Galactocerebrosidase deficiency
Myelin sheath involvement
Optic atrophy
Krabbe Disease
a- galactosidase deficiency
Angiokeratomas
Renal Failure
Fabry disease
Dwarfism
Corneal clouding
a- L iduronidase deficiency
Hurler Syndrome
Thrombocytopenia
Macrophages with cytoplasmic fibrils
Glucocerebrosidase deficiency
Gaucher disease
Cherry red spot on macula
No hepatosplenomegaly
Hexosaminidase A deficiency
Tay-Sachs
Aggressive behavior
No corneal clouding
Iduronate sulfatase deficiency
Hunter Syndrome
Progressive vision loss and dementia
Similar to Krabbe
Arylsulfatase deficiency
Metachromatic leukodystrophy
Cherry red spot on macula
Foam cells
Spingomyelinase deficiency
Neimann- Pick Disease
What are the X-linked recessive Disorders
Oblivious Female Will Often Give Her Boys Her X-Linked Disorders
Ornithine transcarbamylase deficiency Fabry disease Wiskott Aldrich syndrome Ocular albinism G6PD deficiency Hunter syndrome Bruton agammaglobulinemia Hemophilia A and B Lesch-Nyhan Syndrome Duchenne (and Becker)
What gene is defective in Cystic Fibrosis on what chromosome?
CFTR gene on chromosome 7
What lysosomal storage disease has prominent cytoplasmic fibrils that resemble crumpled tissue paper?
Gaucher disease
Which two lysosomal storage disease have myelin sheath pathology leading to peripheral neuropathy?
Krabbe disease
Metachromatic Leukodystrophy
What is deficient enzyme and protein that builds up in Fabry disease
Deficient enzyme: Alpha- galactosidase leading to accumulation of ceramide trihexoside
Deficient enzyme: Alpha- galactosidase leading to accumulation of ceramide trihexoside
Pain (damage to peripheral nerve), renal failure, hypertension, cardiomypathy, angiokeratoma
Fabry Disease
What is deficient enzyme in Gaucher Disease
Glucocerebrosidase leading to accumulation of glucocerebroside
