Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
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DOI: 10.1093/labmed/lmac034
Abstract: OBJECTIVE Maple syrup urine disease (MSUD; OMIM #248600) is an autosomal recessive metabolic disorder in the catabolism of branched-chain amino acids (leucine, isoleucine, and valine) and may be lethal if untreated in affected newborns. METHODS… read more here.
Keywords: maple syrup; syrup urine; pathogenic homozygous; dbt gene ... See more keywords