Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.

doi:10.1016/j.ymgme.2020.01.006

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Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.

Molecular genetics and metabolism - 1 Mar 2020

Strauss Kevin A, Carson Vincent J, Soltys Kyle, Young Millie E, Bowser Lauren E, Puffenberger Erik G, Brigatti Karlla W, Williams Katie B, Robinson Donna L, Hendrickson Christine, Beiler Keturah, Taylor Cora M, Haas-Givler Barbara, Chopko Stephanie, Hailey Jennifer, Muelly Emilie R, Shellmer Diana A, Radcliff Zachary, Rodrigues Ashlin, Loeven KaLynn, Heaps Adam D, Mazariegos George V, Morton D Holmes

Abstract excerpt

Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain α-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine disease (MSUD) phenotype. We collected data about treatment, survival, hospitalization, metabolic control, and liver transplantation from patients with classic (i.e., severe;...

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Identifiers

PMID: 31980395
DOI: 10.1016/j.ymgme.2020.01.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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