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Concept information

Término preferido

Fabry disease

Tipo

  • Topic

Definición

  • Information An X-linked inherited metabolic disease caused by a deficiency of lysosomal alpha-galactosidase A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other glycosphingolipids in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.

Concepto genérico

En otras lenguas

URI

https://lod.nal.usda.gov/nalt/299590

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