LIPID STORAGE DISEASES

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 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
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

• Textbook of Biochemistry-U Satyanarayana
• Textbook of Biochemistry-DM Vasudevan
• Textbook of Biochemistry-MN Chatterjea

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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

LIPID STORAGE DISEASES

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