[Heterozygous Fabry's disease. Case report with electron microscopic studies].
Fabry's disease is an inborn error of sphingolipid metabolism. The lysosomal hydrolase, alpha-galactosidase, is deficient. The full spectrum of symptoms (diffuse angiokeratoma, alpha-galactosidase deficiency) is only seen in males, who are always hemizygous. The heterozygous females may be asymptomatic and the enzyme activity can be normal. Such a case is reported. The diagnosis of this case was made by electron microscopic findings of the characteristic cellular lipid-inclusions within endothelial, perithelial, smooth muscle, and nerve sheath cells. The electron microscopic findings are a valuable clue to the diagnosis in these problem cases. The early diagnosis of female conductors is important for genetic counseling.
D000367:Age Factors; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000235:genetics* / Q000648:ultrastructure; D005260:Female; D006579:Heterozygote; D006801:Humans; D008854:Microscopy, Electron; D009130:Muscle, Smooth / Q000648:ultrastructure; D009131:Muscle, Smooth, Vascular / Q000648:ultrastructure; D009186:Myelin Sheath / Q000648:ultrastructure; D012737:Sex Factors; D000519:alpha-Galactosidase / Q000235:genetics
D000519:alpha-Galactosidase
Heterozygoter Morbus Fabry. Fallbericht mit elektronenmikroskopischer Untersuchung.