YIN-HSIU CHIENBodamer O.A.Chiang S.-C.Mascher H.Hung C.WUH-LIANG HWU2020-12-162020-12-1620130141-8955https://www.scopus.com/inward/record.uri?eid=2-s2.0-84884355929&doi=10.1007%2fs10545-012-9547-1&partnerID=40&md5=24200ca3d38f0a9fd8ecbf8d686d33b7https://scholars.lib.ntu.edu.tw/handle/123456789/525874Lyso-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]SDG3lyso 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 Adultjournal article10.1007/s10545-012-9547-1231090602-s2.0-84884355929