Article
Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China.
QJM : monthly journal of the Association of Physicians - 1 Oct 2024
Yang X, Yang R, Zhang T, Tan D J, Pan R, Chen Z, Wu D, Chen C, Xu Y, Zhang L, Li X, Shu Q, Hu L
Abstract excerpt
BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder originating from defects in the branched-chain α-ketoacid dehydrogenase (BCKDH) complex encoded by BCKDHA, BCKDHB and DBT. This condition presents a spectrum of symptoms and potentially fatal outcomes. Although numerous mutations in the BCKDH complex genes associated with MSUD have been identified, the relationship between...
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