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Pseudo-clinical Fabry's disease without alpha galactosidase deficiency
Biomedicine / [Publiee Pour L'A.A.I.C.I.G.]
|May 1, 1977
Summary
This study details two Fabry disease cases. One shows typical alpha-galactosidase deficiency, while the other presents a novel form with normal enzyme activity but cellular material accumulation, suggesting a complex genetic basis.
Area of Science:
- Biochemistry
- Genetics
- Lysosomal Storage Diseases
Background:
- Fabry disease is a lysosomal storage disorder caused by alpha-galactosidase deficiency.
- Clinical presentation can vary, suggesting potential for atypical forms.
- Understanding genetic and biochemical heterogeneity is crucial for diagnosis and treatment.