Lipid storage diseases

They are lysosomal storage diseases
Also called sphingolipidoses
Rate of synthesis is normal only degradation is affected.
Usually death occurs soon after birth.
Except Fabrys disease(XLR) and Metachromatic leukodystrophy(No inheritence pattern) all of them are AR

Fabry’s disease

  1. Alpha Galactosidase deficiency.
  2. Ceramidetrihexose accumulates.
  3. Neuropathy of hands and feet,Angiokeratomas,Heart failure.

Gaucher’s disease

  1. Beta Glucocerebrosidase deficiency
  2. Glucocerebroside accumulates
  3. 3 types infantile,Juvenile,adult.
  4. HSM,osteoporosis,moderate anemia
  5. Gaucher cells-Crumpled tissue paper macrophages.
  6. Aseptic necrosis of femur,bone crisis.

Niemann Pick disease

  1. Sphingomyelinase deficiency
  2. Sphingomyelin accumulates
  3. HSM,CNS damage,MR,cherry redspots in macula.
  4. Foam cells,fatal in early life.

Tay sachs disease.

  1. Hexosaminidase A
  2. GM2 Ganglioside accumulates
  3. CNS damage,Cherry red spots
  4. Developmental delay,Lysosomes with onion skin.

Krabbe’s disease

  1. Beta galactocerebrosidase deficiency
  2. Galactocerebroside accumulates
  3. Severe MR,total absence of myelin in CNS.
  4. Globoid bodies in white matter
  5. Optic atrophy,fatal in early life.

Metachromatic Leukodystrophy.

  1. Aryl Sulfatase A deficiency.
  2. Cerebroside sulfate accumulates.
  3. Central and peripheral demyelination with ataxia.
  4. Demantia,metachromasia.
  5. Fatal in first decade.

Sandhoff’s disease

  1. Hexosaminidase A and B
  2. Globoside accumulates.
  3. Symptoms same as Tay Sach’s but rapidly progress.

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