Article

Identification of Four Novel Mutations in Chilean Patients with Various Forms of Maple Syrup Urine Disease 

2020-02-18

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four genes: BCKDHA, BCKDHB, DBT, and DLD. MSUD is predominantly caused by mutations in the BCKDHA, BCKDHB, and DBT genes which...

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Literature Corpus work: 79176e93-bda7-5e0a-b4d4-84d8af2fc741
DOI: 10.21203/rs.2.18080/v2

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