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• W2152082743 abstract "Abstract Lyso‐globotriaosylsphingosine (lyso‐Gb 3 ) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso‐Gb 3 is elevated in patients with later‐onset Fabry disease. Thus, we measured lyso‐Gb 3 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‐Gb 3 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‐Gb 3 levels were elevated and were higher than in age‐matched controls. The elevation of lyso‐Gb 3 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‐Gb 3 levels is useful in the diagnosis of Fabry disease, including the later‐onset phenotype. The DBS lyso‐Gb 3 level was not elevated in IVS4+919G>A heterozygotes, and is not useful for their diagnosis. Since lyso‐Gb 3 levels are elevated from birth in Fabry disease males, “an elevated lyso‐Gb 3 level” may be of little values for deciding when to begin enzyme replacement therapy." @default.
• W2152082743 created "2016-06-24" @default.
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• W2152082743 date "2012-10-30" @default.
• W2152082743 modified "2023-10-18" @default.
• W2152082743 title "Lyso‐globotriaosylsphingosine (lyso‐Gb₃) levels in neonates and adults with the Fabry disease later‐onset <i>GLA</i> IVS4+919G>A mutation" @default.
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• W2152082743 doi "https://doi.org/10.1007/s10545-012-9547-1" @default.
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