Wada, Yoichi published the artcileBiallelic GALM pathogenic variants cause a novel type of galactosemia, Recommanded Product: (2R,3S,4S,5R)-2,3,4,5,6-Pentahydroxyhexanal, the main research area is biallelic GALM galactosemia peripheral blood mononuclear cell; GALM; Leloir pathway; galactose; galactose mutarotase; genetics.
Galactosemia is caused by metabolic disturbances at various stages of galactose metabolism, including deficiencies in enzymes involved in the Leloir pathway (GALT, GALK1, and GALE). Nevertheless, the etiol. of galactosemia has not been identified in a subset of patients. This study aimed to explore the causes of unexplained galactosemia. Trio-based exome sequencing and/or Sanger sequencing was performed in eight patients with unexplained congenital galactosemia. In vitro enzymic assays and immunoblot assays were performed to confirm the pathogenicity of the variants. The highest blood galactose levels observed in each patient were 17.3-41.9 mg/dL. Bilateral cataracts were observed in two patients. In all eight patients, we identified biallelic variants (p.Arg82*, p.Ile99Leufs*46, p.Gly142Arg, p.Arg267Gly, and p.Trp311*) in the GALM encoding galactose mutarotase, which catalyzes epimerization between β- and α-D-galactose in the first step of the Leloir pathway. GALM enzyme activities were undetectable in lymphoblastoid cell lines established from two patients. Immunoblot anal. showed the absence of the GALM protein in the patients’ peripheral blood mononuclear cells. In vitro GALM expression and protein stability assays revealed altered stabilities of the variant GALM proteins. Biallelic GALM pathogenic variants cause galactosemia, suggesting the existence of type IV galactosemia.
Genetics in Medicine published new progress about Blood. 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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