title: Clinical, histopathological, and biochemical findings in Fabry's disease. A case report and family study.
abstract: An extensive enzymatic and morphological study was performed in a 38-year-old patient with Fabry's disease (FD). The quantitative evaluation of the enzyme alpha-galactosidase was shown to be important in identifying the genetic distribution of FD in the family tree of the patient under study. An enzymatic activity less than 0.5 nanomole/hr/10(6) cells and ranging from 2.2 to 1.1 nanomoles/hr/10(6) cells was found in the affected males and the heterozygous females, respectively. alpha-galactosidase activity in the patient's leukocytes correlates well with the histopathological findings of the kidney and skin biopsy specimens, thus demonstrating the need for both of these special examinations for a correct diagnosis of FD.
mesh_terms: D000328:Adult; D001485:Basement Membrane / Q000473:pathology; D002196:Capillaries / Q000473:pathology; D000795:Fabry Disease / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D005696:Galactosidases / Q000378:metabolism*; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D007678:Kidney Glomerulus / Q000098:blood supply / Q000473:pathology*; D007684:Kidney Tubules / Q000473:pathology; D007962:Leukocytes / Q000201:enzymology*; D008297:Male; D010375:Pedigree; D012867:Skin / Q000473:pathology*; D014617:Vacuoles / Q000473:pathology
chemical_list: D005696:Galactosidases