ArticleGenetics in medicine open2026
Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening.
Article in Genetics in medicine open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: Fabry disease (FD), an X-linked lysosomal storage disorder caused by the deficiency of α-galactosidase A, results in the accumulation of globotriaosylceramide and its deacylated derivative globotriaosylsphingosine (lyso-Gb3). Little is known about lyso-Gb3 levels in pediatric population identified through neonatal screening. This study evaluated levels of lyso-Gb3 at birth and during childhood. Methods: Plasma lyso-Gb3 levels were monitored annually in 25 males with FD identified by newborn screening. Long-term clinical follow-up was extended up to a maximum of 9 years of age. Results: A total of 105 plasma samples were collected. For 14 patients with later-onset (LO) variants, 53 lyso-Gb3 values were collected, 50 of which were elevated (mean 2.87 nmol/L, SD 3.46, nv <0.43 nmol/L). We analyzed 52 samples from 11 patients with variants of uncertain significance (VUS), 29 of which were mildly elevated (0.43-1 nmol/L), with overlapping values at birth. Increased lyso-Gb3 levels for LO variants were most pronounced during the first 2 years, after which the values plateaued. Conversely, lyso-Gb3 in VUS increased minimally and then stabilized. Conclusion: Lyso-Gb3 levels were elevated earlier than clinical symptoms in infants with LO FD, increased significantly in the first 2 years of life, and remained stable during follow-up. Differences in Lyso-Gb3 levels between LO variants and VUS were significant (
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