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Fabry disease

MIM.301500

Wednesday 24 September 2003

Fabry’s disease, Anderson-Fabry disease, Angiokeratoma corporis diffusum, Ruiter-Pompen-Wyers syndrome, Ceramide trihexosidosis, Sweeley-Klionsky disease

Definition: Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism due to mutations in the GLA gene that encodes the lysosomal exoglycohydrolase alpha-galactosidase A (alpha-GalA) (MIM.301500)

Fabry disease is an X-linked generalized progressive debilitating lysosomal storage disorder. The disease usually manifests in childhood, but the diagnosis is often made following the occurrence of late-stage complications such as progressive kidney failure.

Images

- Myocardial Fabry disease

- EM zebra bodies

Synopsis

- systemic anomalies

  • retarded growth
  • delayed puberty

- ocular anomalies

  • Whorl-like corneal dystrophy in heterozygous females and hemizygous males

- cardiovascular anomalies

- mild obstructive lung disease
- limited extension of terminal joints

- cutaneous anomalies

- glycosphingolipid deposition in all areas of the body
- lipid-laden macrophages in bone marrow and renal glomeruli
- renal sinus cysts (parapelvic kidney cysts) (15327390)

Biology

- Proteinuria
- Alpha-galactosidase A deficiency in plasma, leukocytes, or fibroblasts
- Increased level of globotriaosylceramide in plasma and urinary sediment .

Etiology

- Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism due to mutations in the GLA gene that encodes the lysosomal exoglycohydrolase alpha-galactosidase A (alpha-GalA) (MIM.301500)

See also

- Lipids

  • sphingolipids (> sphingolipidoses)
    • glycosphingolipids (> glycosphingolipidoses)

- storage diseases

  • lysosomal storage diseases
    • lipid strorage diseases