 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.
 Enzyme defect: Ceramidase
 Characterized by skeletal deformation,
subcutaneous nodules, dermatitis & mental
retardation.
 It is fatal in early life.
 Enzyme defect: β-glucosidase.
 Tissue glucocerebroside levels increase.
 Hepatomegaly & splenomegaly
 Osteoporosis, pigmentation of skin, anemia &
mental retardation.
 Gaucher's disease is fatal.
 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.
 Galactocerebroside

Krabbe’s disease β- Galactosidase

Galactose
Glucose Fatty acid
Glucocerebroside Ceramide Sphingosine
β- Glucosidase Ceramidase
Farber’s disease
Gaucher’s disease
Choline -P
Sphingomyelinase
Niemann-Pick disease

Sphingomyelin
• Textbook of Biochemistry-U Satyanarayana

• Textbook of Biochemistry-DM Vasudevan

• Textbook of Biochemistry-MN Chatterjea