📋Overview
Fabry Disease is a rare inherited lysosomal storage disorder characterized by a deficiency of the enzyme alpha-galactosidase A. This deficiency causes a progressive accumulation of globotriaosylceramide, a specific type of fat, within cellular structures throughout the body.
This condition follows an X-linked pattern of inheritance and primarily affects males, though females may also experience clinical symptoms. The cellular buildup typically begins in childhood and can impact various tissues and organ systems as the substance continues to accumulate over time.
Educational overview only. This page summarizes publicly available health information for general understanding and awareness. It does not provide medical advice, diagnosis, or treatment. For personalized guidance or care decisions, consult a qualified healthcare professional.
Medical codes (for reference)
UMLS CUI: C0002986Codes are provided for reference and interoperability. They are not a diagnosis.
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