Witters, Peter published the artcileClinical and biochemical improvement with galactose supplementation in SLC35A2-CDG, Recommanded Product: (2R,3S,4S,5R)-2,3,4,5,6-Pentahydroxyhexanal, the main research area is galactose SLCA glycosylation congenital disorder; Nijmegen Pediatric CDG Rating Scale (NPCRS); SLC35A2-CDG; galactose; glycan; glycosylation.
Abstract: Purpose: We studied galactose supplementation in SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG), caused by monoallelic pathogenic variants in SLC35A2 (Xp11.23), encoding the endoplasmic reticulum (ER) and Golgi UDP-galactose transporter. Patients present with epileptic encephalopathy, developmental disability, growth deficiency, and dysmorphism. Methods: Ten patients with SLC35A2-CDG were supplemented with oral D-galactose for 18 wk in escalating doses up to 1.5 g/kg/day. Outcome was assessed using the Nijmegen Pediatric CDG Rating Scale (NPCRS, ten patients) and by glycomics (eight patients). Results: SLC35A2-CDG patients demonstrated improvements in overall Nijmegen Pediatric CDG Rating Scale (NPCRS) score (P = 0.008), the current clin. assessment (P = 0.007), and the system specific involvement (P = 0.042) domains. Improvements were primarily in growth and development with five patients resuming developmental progress, which included postural control, response to stimuli, and chewing and swallowing amelioration. Addnl., there were improvements in gastrointestinal symptoms and epilepsy. One patient in our study did not show any clin. improvement. Galactose supplementation improved patients′ glycosylation with decreased ratios of incompletely formed to fully formed glycans (M-gal/disialo, P = 0.012 and monosialo/disialo, P = 0.017) and increased levels of a fully galactosylated N-glycan (P = 0.05). Conclusions: Oral D-galactose supplementation results in clin. and biochem. improvement in SLC35A2-CDG. Galactose supplementation may partially overcome the Golgi UDP-galactose deficiency and improves galactosylation. Oral galactose is well tolerated and shows promise as dietary therapy.
Genetics in Medicine published new progress about Glycosylation Role: BSU (Biological Study, Unclassified), BIOL (Biological Study). 59-23-4 belongs to class alcohols-buliding-blocks, name is (2R,3S,4S,5R)-2,3,4,5,6-Pentahydroxyhexanal, and the molecular formula is C6H12O6, Recommanded Product: (2R,3S,4S,5R)-2,3,4,5,6-Pentahydroxyhexanal.
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