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Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2021

Medina María Fernanda, Castro Gabriela, Falcon Felipe, Cabello Juan Francisco, Faundes Víctor, Ruffato Diana, Salazar María Florencia, Arias Carolina, Peñaloza Felipe, De La Parra Alicia, Cornejo Verónica

Abstract excerpt

Maple urine syrup disease (MSUD) is an autosomal recessive disorder characterized by deficient activity of the branched-chain alpha ketoacid dehydrogenase (BCKAD) enzymatic complex due to biallelic variants in the alpha (BCKDHA) or beta (BCKDHB) subunits or the acyltransferase component (DBT). Treatment consists in leucine (LEU), isoleucine (ILE), and valine (VAL) (branched-chain amino acids) dietary restriction...

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PMID: 34288399
DOI: 10.1002/ajmg.c.31933

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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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