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myocardial Fabry disease

Monday 27 March 2017

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

See also

- myocardial diseases

- Fabry disease