Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004153 (atherosclerosis)
 77,401 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fabry's disease is glycolipid sphingolipidosis which belongs to the group of lipid storage diseases and has as its underlying cause congenital deficiency of alpha-galactosidase. The pathologic anatomy of visceral lesions is described at the macroscopic, light-optical, and electron-microscopic levels in a 50-year-old male with striking systemic manifestations of Fabry's disease. In addition to lesions typical for glycolipid sphingolipidosis, atherosclerosis involving primarily heart arteries (which is not characteristic for this disease) was found in the patient. This case demonstrates that although cutaneous lesions underlie the traditional designation of Fabry's disease as angiokeratoma corporis diffusum, skin involvement is only one of its external signs.
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PMID:[Visceral manifestations of glycosphingolipidosis (Fabry's disease)]. 311 21