The continuous challenge of diagnose Fabry patients in Argentina: genotype, experiences, anecdotes and new learnings

ROZENFELD PA; CECI R; ROA N; KISINOVSKI I

JOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING

sage

Año: 2015 p. 1 - 7

2326-4098

The lysosomal storage disorder FD (FD) is caused by pathogenic mutations in the alpha-galactosidase A (GLA) gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A (αGalA), leads to accumulation of its substrate globotriaosylceramide (Gb3). Diagnosis of FD starts with clinical suspicion followed by confirmatory lab testing. The aim of this work is to report the 14 years experience and learnings in diagnosis of Fabry patients in Argentina from a specialized lysosomal diseases diagnosis laboratory and to report the t genotype characterization of the 25 families from Argentina with FD detected by us