https://www.selleckchem.com/pr....oducts/ITF2357(Givin
In Congenital Disorder of Glycosylation (CDG) type Ia, homozygous mutations of the PMM2 gene cause phosphomannomutase 2 dysfunction. Herein, a 10-month-old girl is presented with severe hypotonia along with inappropriately normal mental status and normal facies. High 2-ketoglutaric acid was detected in her urine; therefore the diagnosis of 2-Ketoglutarate dehydrogenase complex (KDHC) deficiency was made for this patient. High dose of vitamin B1 was administered, because thiamine is considered as a co-factor in this inborn er
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