Abstract
Fabry disease in an X-linked disorder characterized by the abnormal accumulation of a neutral glycolipid, trihexosylceramide, and its clinical manifestations are protean. The deficient enzyme is the one which cleaves the glycosidic bond between the terminal and pre-terminal galactose residues of trihexosylceramide. We report on the alpha-galactosidase assay and X-inactivation studies in patients with a suspected Fabry disease.
Original language | English |
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Pages (from-to) | 421-421 |
Number of pages | 1 |
Journal | American Journal of Human Genetics |
Volume | 2002 |
Publication status | Published - 2002 |
Keywords
- Fabry disease