[Fabry disease: clinical, biochemical and electron microscopical studies (author's transl)]

Abstract

Biochemical investigations on blood-plasma and serum as well as well as electron microscopic investigations on skin lesions biopsy specimens were carried out in one case of morbus Fabry 35 years of age distinctly showing cardio-renal symptoms. The diagnosis of Fabry disease was made when the patient was hospitalized for treatment of a chronic glomerulonephritis. The patients' serum alpha-galactosidase activity was reported to be 10 to 13% of normal controls, whereas the values of trihexosyl-ceramids for blood-plasma and serum were increased. Electron microscopic studies revealed that the endothelial cells and pericytes of the cutaneous vessels as well as the fibroblasts contain numerous liposome-like cytoplasmic inclusions of different size showing an internal lamellar structure with exact periodizity of 65 A. These inclusion are not surrounded by a membrane structure, however, it is possible that the arise from defect lysosomes which accumulate trihexosyl-ceramids owing to insufficient of alpha-galactosidase activity.