Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation
Journal
Journal of Inherited Metabolic Disease
Journal Volume
36
Journal Issue
5
Pages
881-885
Date Issued
2013
Author(s)
Abstract
Lyso-globotriaosylsphingosine (lyso-Gb3) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso-Gb3 is elevated in patients with later-onset Fabry disease. Thus, we measured lyso-Gb3 levels from dried blood spots (DBS) from male newborns with the Fabry disease later-onset phenotype, IVS4+919G>A mutation, and their family members. The lyso-Gb3 levels were below the detection limit in normal control newborns and were slightly higher in adults. In males of all ages with the IVS4+919G>A mutation, lyso-Gb3 levels were elevated and were higher than in age-matched controls. The elevation of lyso-Gb3 levels in males with the IVS4+919G>A mutation was only slightly elevated compared with patients with the classical Fabry phenotype. The measurement of lyso-Gb3 levels is useful in the diagnosis of Fabry disease, including the later-onset phenotype. The DBS lyso-Gb3 level was not elevated in IVS4+919G>A heterozygotes, and is not useful for their diagnosis. Since lyso-Gb3 levels are elevated from birth in Fabry disease males, "an elevated lyso-Gb3 level" may be of little values for deciding when to begin enzyme replacement therapy. ? 2012 SSIEM and Springer Science+Business Media Dordrecht.
SDGs
Other Subjects
lyso globotriaosylsphingosine; sphingosine derivative; unclassified drug; adolescent; adult; age distribution; aged; article; child; controlled study; dried blood spot testing; enzyme activity; enzyme replacement; Fabry disease; female; gene; gene mutation; gene sequence; genetic counseling; GLA gene; heterozygosity; homozygosity; human; infant; limit of detection; limit of quantitation; major clinical study; male; newborn; newborn screening; phenotype; pilot study; preschool child; school child; sex difference; Adolescent; Adult; Aged; Aged, 80 and over; Biological Markers; Child; Child, Preschool; Fabry Disease; Female; Glycolipids; Heterozygote; Humans; Infant; Infant, Newborn; Male; Middle Aged; Mutation; Phenotype; Pilot Projects; Sphingolipids; Young Adult
Type
journal article