Lipid Storage Diseases
Lipid storage diseases are also called as sphingolipidosis. They are degraded by hydrolytic
enzymes found in lysosomes .When the degradation is impaired; sphingolipids accumulate in the
tissues.
1. Nieman-pick disease
Sphingomyelin accumulates in brain, liver and spleen .The condition is due to deficiency of
sphingomyelinase .Patient suffers from mental retardation and early death.
2. Gaucher’s disease.
Glucocerebroside accumulates in liver, spleen, brain and bone marrow, due to the deficiency of
glucocerebrosidase .Patient suffers from mental retardation.
3. Tay-Sach’s disease.
Hexoseaminidase is absent as a result gangliosides accumulate in brain, spleen and retina.
Patient suffers from demyelination. Cerebral degeneration, mental retardation and early death.
Fatty Liver:
Excess accumulation triglycerides in liver causes fatty liver,Liver cirossis and failure of liver
function.
Causes are:
• Elivated levels of free fatty acid in blood
• Deficiency of lipotropic factors,which help in the mobilization of fat from liver
• Failure in the secretion of lipoproteins from liver
• Chronic alcoholism
• Prolonged treatment with antibiotics