lysosomal storage disorders

What is the enzyme deficient in I-cell?

N-acetylglucosaminyl-1-phosphotransferase

What accumulates in I-cell?

lysosomal enzymes in the plasma

What are symptoms of I-cell?

Course facial features, corneal clouding, restricted joint movement

What is the enzyme deficient in Fabry’s disease?

alpha glucosidase-A

What accumulates in Fabry’s disease?

GL3

What are symptoms of Fabry’s disease?

burning pain in hands and feet, reduced sweating

What enzyme is deficient in Gaucher’s disease?

beta-glucosidase

What accumulates in Gaucher’s disease?

glucocerebroside

What are characteristics of Gaucher’s disease?

hepatosplenomegaly, anemia, bone pain, bruising

What lysosomal storage disorder contains cells with a “tissue paper” appearance

Gaucher’s disease

What enzyme is deficient in Tay-Sach’s disease?

Hexoaminidase A

What accumulates in Tay-Sach’s disease?

GM2 ganglioside

What are the characteristics of Tay-Sach’s disease?

cherry red spot, increased startle response; no hepatosplenomegaly

What lysosomal storage disorder is X-linked?

Tay-Sach’s

What enzyme is deficient in Niemann-Pick disease?

sphingomyelinase

What accumulates in Niemann-Pick disease?

sphingomyelin

What is a symptom of Niemann-Pick disease?

progressive loss of motor skills, cherry red spot

What histological finding is consistent with Niemann-Pick disease?

foam cells

What enzyme is deficient in Hurler disease?

alpha-L-iduronidase

What accumulates in Hurler and Hunter’s disease?

heparin and durmatan sulfate

What enzyme is deficient in Hunter disease?

iduronate sulfatase

What symptoms occur in Hurler disease?

gargoyle-like features, corneal clouding, developmental delays, hepatosplenomegaly

What symptoms are common in Hunter disease?

aggression, developmental delays, hepatosplenomegaly; NO corneal clouding