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Clinical Features of Fabry Disease (Deficiency of alpha-Galactosidase A)

Specialty:

Genetics

Objective:

ICD-10:

Description:

Fabry disease is an inherited defect in the lysosomal enzyme alpha-galactosidase A, resulting in progressive accumulation of glycophospholipids in lysosomes. Organ failures occur when the lysosomal deposits begin to compromise perfusion and function.

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