[Fabry disease (alpha-galactosidase deficiency)].

Article

[Fabry disease (alpha-galactosidase deficiency)].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1995

Okumiya T, Sakuraba H

Abstract excerpt

Fabry disease is an X-linked glycosphingolipid storage disorder resulting from a deficiency of lysosomal alpha-galactosidase (alpha-Gal; EC 3.2.1.22). Classical form patients, with clinical manifestations of generalized angiopathy of early onset, usually show no detectable alpha-Gal activity. The...

Topics

Analgesics, Non-Narcotic
Carbamazepine
Fabry Disease
Humans
Lysosomes
Mutation
alpha-Galactosidase

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