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Fabry disease

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Definition

noun

A type of sphingolipidosis that is often caused by a deficiency in α-galactosidase A resulting in the accumulation of glycolipids, particularly ceramide trihexoside, in the endothelial cells in blood vessel walls


Supplement

Sphingolipidosis is a collective term for the various metabolic disorders due to an abnormal sphingolipid metabolism. One of them is Farby disease.

Farby disease is a metabolic disorder that is caused by the accumulation of glycolipids, particularly ceramide trihexoside, in the lysosomes of the endothelial cells in blood vessel walls. The accumulation is due to a deficiency of a functional α-galactosidase A. This enzyme is a glycoside hydrolase that hydrolyses the terminal alpha-galactosyl moieties from the glycolipids and the glycoproteins. The deficiency of this enzyme may be attributed to a mutation in the gene encoding it (i.e.GLA gene). Farby disease may be inherited as an X-linked trait. Thus, the symptoms of Farby disease are more pronounced among men that bear a copy of the defective gene. The symptoms in women may vary from having no symptoms to having severe symptoms.

The disease is named after Johannes Fabry, a German dermatologist, who first described it in 1898. He called the disease purpura haemorrhagica nodularis based on the dermatological features of the disease on a 13-year-old boy.


Synonym(s):

  • alpha-galactosidase A deficiency
  • Anderson-Fabry disease
  • angiokeratoma corporis diffusum
  • diffuse angiokeratoma
  • glycolipid lipidosis
  • Ruiter-Pompen disease
  • Sweeley-Klionsky disease

See also: