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Article

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.

American journal of medical genetics. Part A - 1 Sept 2022

Billington Charles J, Chapman Kimberly A, Leon Eyby, Meltzer Beatrix W, Berger Seth I, Olson Matthew, Figler Robert A, Hoang Steve A, Wanxing Cui, Wamhoff Brian R, Collado M Sol, Cusmano-Ozog Kristina

Abstract excerpt

Maple syrup urine disease (MSUD) is an intoxication-type inherited metabolic disorder in which hyperleucinemia leads to brain swelling and death without treatment. MSUD is caused by branched-chain alpha-ketoacid dehydrogenase deficiency due to biallelic loss of the protein products from the genes BCKDHA, BCKDHB, or DBT, while a distinct but related condition is caused by loss of DLD. In this case series, eleven...

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Identifiers

PMID: 35799415
DOI: 10.1002/ajmg.a.62893
PMCID: PMC9542135

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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