Article

Maple Syrup Urine Disease in Brazilian Patients: Variants and Clinical Phenotype Heterogeneity

2020-10-20

Abstract excerpt

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

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Literature Corpus work: 5e6cabf1-f4f3-5952-8434-d21723db6b31
DOI: 10.21203/rs.2.17565/v4

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