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Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.

Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2022

Yang Jianmei, Xiu Jianjun, Sun Yan, Liu Fan, Shang Xiaohong, Li Guimei

Abstract excerpt

BACKGROUND: Maple syrup urine disease (MSUD) is a rare metabolic autosomal recessive disorder caused by deficiency of the branched-chain α-ketoacid dehydrogenase complex. Mutations in the BCKDHA, BCKDHB and DBT genes are responsible for MSUD. This study presents the clinical and molecular characterizations of four MSUD patients. METHODS: Clinical data of patients were retrospectively analyzed, and genetic...

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3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
China
Maple Syrup Urine Disease
Mutation

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34883003
DOI: 10.1515/jpem-2021-0672

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