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[Fabry disease: clinical, biochemical and electron microscopical studies (author's transl)]
Dermatologische Monatschrift
|January 1, 1979
Summary
This study investigates a patient with Fabry disease, revealing low alpha-galactosidase activity and elevated trihexosyl-ceramides. Electron microscopy showed characteristic cytoplasmic inclusions in skin cells, suggesting a lysosomal defect.
Area of Science:
- Biochemistry
- Cell Biology
- Genetics
Context:
- Fabry disease is a rare genetic lysosomal storage disorder.
- Cardio-renal symptoms are common manifestations.
- Diagnosis often occurs during hospitalization for related complications.
Purpose:
- To investigate the biochemical and ultrastructural findings in a patient with Fabry disease.
- To correlate enzyme activity and substrate levels with cellular morphology.
- To elucidate the underlying cellular mechanisms of Fabry disease.
Summary:
- Biochemical analysis revealed significantly reduced serum alpha-galactosidase activity (10-13% of normal) and increased plasma/serum trihexosyl-ceramides.
- Electron microscopy of skin biopsy identified numerous membrane-less, lamellar cytoplasmic inclusions (periodicity 65 Å) in endothelial cells, pericytes, and fibroblasts.
- These inclusions are hypothesized to result from defective lysosomes accumulating trihexosyl-ceramides due to alpha-galactosidase deficiency.
Impact:
- Provides detailed case-specific biochemical and ultrastructural data for Fabry disease.
- Corroborates the role of alpha-galactosidase deficiency in trihexosyl-ceramide accumulation and cellular pathology.
- Contributes to understanding the pathogenesis of Fabry disease-related cardio-renal complications.