Article

Anderson – Fabry Disease Homozygosity: Rare Case of Late-Onset Variant

2023-12-19

Abstract excerpt

Anderson – Fabry disease (AFD) is a rare, X-linked lysosomal storage disorder caused by a mutation in the α-Galactosidase A gene resulting in α-Galactosidase A enzyme (α-Gal A) deficiency. The metabolic defect leads to progressive accumulation of glycosphingolipids and structural and functional impairment of affected organs. Due to the inheritance pattern, male patients are hemizygous with more severe manifestatio...

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Literature Corpus work: 885244a9-40a4-5925-9d9c-25a6f40f8345
DOI: 10.20944/preprints202312.1405.v1

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