- deficiency of alpha-galactosidase A , causing accumulation of globotriaosylceramide
- myelin deposits in tubular epithelium and vascular endothelium resulting ischemic nephropathy
- presents with peripheral neuropathy (burning sensation of extremities evoked by vigorous exercise, hot weather or febrile illness) and cardiac conduction defect
- Absent of alpha-gal A in leukocytes confirm the diagnosis
- slit lamp examination revealed microscopic lipid deposits (corneal verticillata)
- skin lesion is known as angiokeratoma corporis diffusum (most prominent periumbilically)
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