University:
Liberty University
Course:
BIOM 500 | Introduction to Biomedical Sciences
Academic year:

2024
Views:

336

Pages:

5
Author:

Sheha A.

Sphingolipidoses With Characteristics Disease Enzyme Deficiency Sphingolipid Accumulation Clinical Features Niemann-Pick Sphingomyelinase Sphingomyelin Hepatosplenomegaly, mental retardation, foamy cells, early death Gaucher's β-Glucosidase Glucosylceramide Hepatosplenomegaly, mental retardation, Gaucher cells Krabbe's β-Galactosidase Galactosylceramide Psychosis, spasticity, total absence of myelin Fabry's Ceramide trihexoside Skin rash, pain, kidney failure Metachromatic leukodystrophy Sulfatide Ataxia, demyelination, progressive deterioration of cognitive function Krabbe's Galactosylceramide Psychosis, spasticity, total absence of myelin Gaucher's Glucosylceramide Hepatosplenomegaly, mental retardation, Gaucher cells Compounds formed from Cholesterol: Cholesterol cannot be broken down in humans. Cholesterol is converted to bile acids, excreted in feces. It also serves as a precursor for the synthesis of steroid hormones. Vitamin D, steroid hormones, and cholesterol.