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Article

Metabolic progression to clinical phenotype in classic Fabry disease.

Italian journal of pediatrics - 3 Jan 2017

Spada Marco, Kasper David, Pagliardini Veronica, Biamino Elisa, Giachero Silvana, Porta Francesco

Abstract excerpt

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),...

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Identifiers

PMID: 28049500
DOI: 10.1186/s13052-016-0320-1
PMCID: PMC5209809

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