LIPID STORAGE DISEASES

LIPID STORAGE DISEASES

1. Lipid Storage Diseases Gandham.Rajeev Email:[email protected]

2. Niemann -Pick disease lt is an inherited disorder. Enzyme defect: Sphingomyelinase . Accumulation of sphingomyelins in liver & spleen Hepatomegaly & splenomegaly Mental retardation (due to accumulation of sphingomyelins in brain). Death may occur in early childhood.

3. Farber's disease Enzyme defect: Ceramidase Characterized by skeletal deformation, subcutaneous nodules, dermatitis & mental retardation . It is fatal in early life.

4. Gaucher's disease Enzyme defect: β - glucosidase . Tissue glucocerebroside levels increase. Hepatomegaly & splenomegaly Osteoporosis , pigmentation of skin , anemia & mental retardation. Gaucher's disease is fatal.

5. Krabbe's disease Enzyme defect: β - galactosidase Accumulation of galactocerebrosides . A total absence of myelin in the nervous tissue is a common feature. Severe mental retardation , convulsions, blindness , deafness etc. Krabbe's disease is fatal in early life.

6. Degradation of cerebrosides & sphingomyelins Galactocerebroside Ceramide Sphingomyelin Glucocerebroside Sphingosine Galactose β - Galactosidase Ceramidase Fatty acid Choline -P Sphingomyelinase Glucose β - Glucosidase Krabbe’s disease Gaucher’s disease Niemann -Pick disease Farber’s disease

7. References Textbook of Biochemistry-U Satyanarayana Textbook of Biochemistry-DM Vasudevan Textbook of Biochemistry-MN Chatterjea

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