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Article

Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.

American journal of medical genetics. Part A - 1 Jan 2020

Baban Anwar, Adorisio Rachele, Corica Bernadette, Rizzo Cristiano, Calì Federica, Semeraro Michela, Taurisano Roberta, Magliozzi Monia, Carrozzo Rosalba, Parisi Francesco, Dallapiccola Bruno, Vaz Frédéric M, Drago Fabrizio, Dionisi-Vici Carlo

Abstract excerpt

Infantile onset cardiomyopathies are highly heterogeneous with several phenocopies compared with adult cardiomyopathies. Multidisciplinary management is essential in determining the underlying etiology in children's cardiomyopathy. Elevated urinary excretion of 3-methylglutaconic acid (3-MGA) is a useful tool in identifying the etiology in some metabolic cardiomyopathy. Here, we report the delayed appearance of...

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PMID: 31729175
DOI: 10.1002/ajmg.a.61383

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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