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Fabry Disease - Medical Condition Information

Fabry Disease

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📋Overview

Fabry disease is a rare inherited lysosomal storage disorder caused by deficient activity of the enzyme alpha-galactosidase A. This leads to accumulation of globotriaosylceramide (GL-3) in various tissues, causing progressive multi-organ damage. It is an X-linked genetic condition primarily affecting males, though females can also be symptomatic. Fabry disease is the modern preferred term; no widely used synonyms exist.

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Medical codes (for reference)

UMLS CUI: C0002986
ICD-10-CM
E75.21
MeSH
D000795
SNOMED CT (US)
16652001124464003

Codes are provided for reference and interoperability. They are not a diagnosis.

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