Metabolic progression to clinical phenotype in classic Fabry disease.

ABSTRACT:

Background

Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant storage of globotriaosylceramide (Gb3) and related glycosphingolipids, but the extent of the metabolic progression before symptoms is unknown. Using a newly recognized effector and marker of Fabry disease, globotriaosylsphingosine (LysoGb3), we aimed to provide a metabolic picture of classic Fabry disease from the neonatal period to childhood.

Methods

LysoGb3 was assessed at different times in two brothers with classic Fabry disease (genotype c. 370-2 A > G). The firstborn was diagnosed after clinical onset at 11 years of age, whereas the second-born was diagnosed in the neonatal period. LysoGb3 was measu

SUBMITTER: Spada M 

PROVIDER: S-EPMC5209809 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature