Recent Therapeutics for Fabry Disease

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Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring

BACKGROUND In Fabry disease (alpha-galactosidase A deficiency) accumulation of Globotriaosylceramide (Gb3) leads to progressive organ failure and premature death. The introduction of enzyme replacement therapy (ERT) was the beginning of a new era in this disorder, and has prompted a broad range of research activities. This review aims to summarize recent developments and progress with high impa...

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Fabry disease

Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteris...

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Fabry disease.

More than a hundred years ago, in 1898, two dermatologists, William Anderson in England and Johannes Fabry in Germany, independently reported on patients with multiple angiokeratomas as well as some other symptoms. Today, the disease is called Anderson-Fabry or only Fabry disease, or angiokeratoma corporis diffusum, the latter being more often found in dermatologic literature. Fabry disease is ...

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ژورنال

عنوان ژورنال: Nihon Naika Gakkai Zasshi

سال: 2009

ISSN: 0021-5384,1883-2083

DOI: 10.2169/naika.98.875