Metabolic progression to clinical phenotype in classic Fabry disease

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• 作者：Marco Spada ; David Kasper ; Veronica Pagliardini…
• 关键词：Fabry disease ; Globotriaosylsphingosine ; Lysosomal storage disorders
• 刊名：Italian Journal of Pediatrics
• 出版年：2017
• 出版时间：December 2017
• 年：2017
• 卷：43
• 期：1
• 全文大小：336KB
• 刊物主题：Pediatrics; Maternal and Child Health;
• 出版者：BioMed Central
• ISSN：1824-7288
• 卷排序：43

文摘

BackgroundFabry 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.