Welsink-Karssies, Mendy M. published the artcileThe 1-13C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes, Recommanded Product: (2R,3S,4S,5R)-2,3,4,5,6-Pentahydroxyhexanal, the main research area is GALT1 GAL1P prognosis diagnosis galactosemia movement disorder infant; 13CO2; galactose oxidation; inborn error of metabolism; isotope ratio mass spectrometry.
Classical galactosemia (CG) patients frequently develop long-term complications despite early dietary treatment. The highly variable clin. outcome is poorly understood and a lack of prognostic biomarkers hampers individual prognostication and treatment. The aim of this study was to investigate the association between residual galactose oxidation capacity and clin. and biochem. outcomes in CG patients with varying geno- and phenotypes. The noninvasive 1-13C galactose breath test was used to assess whole body galactose oxidation capacity. Participants received a 7 mg/kg oral dose of 1-13C labeled galactose. The galactose oxidation capacity was determined by calculating the cumulative percentage dose of the administered galactose (CUMPCD) recovered as 13CO2 in exhaled air. Forty-one CG patients (5-47 years) and four adult controls were included. The median galactose oxidation capacity after 120 min (CUMPCDT120) of 34 classical patients (0.29; 0.08-7.51) was significantly lower when compared to two homozygous p.Ser135Leu patients (9.44; 8.66-10.22), one heterozygous p.Ser135Leu patient 18.59, four NBS detected variant patients (13.79; 12.73-14.87) and four controls (9.29; 8.94-10.02). There was a clear correlation between Gal-1-P levels and CUMPCDT120 (P < .0005). In the classical patients, the differences in CUMPCDT120 were small and did not distinguish between patients with poor and normal clin. outcomes. The galactose breath test distinguished classical patients from homo- and heterozygous p.Ser135Leu and NBS detected variant patients, but was not able to predict clin. outcomes in classical patients. Future studies are warranted to enable individualised prognostication and treatment, especially in NBS variants with galactose oxidation capacities in the control range. Journal of Inherited Metabolic Disease published new progress about Diagnosis. 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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