LIPID STORAGE DISEASES

2.  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.  Enzyme defect: Ceramidase
 Characterized by skeletal deformation,
subcutaneous nodules, dermatitis & mental
retardation.
 It is fatal in early life.

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

5.  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. 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. • Textbook of Biochemistry-U Satyanarayana
• Textbook of Biochemistry-DM Vasudevan
• Textbook of Biochemistry-MN Chatterjea