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Article

Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2024

Elizondo Gabriela, Saini Ajesh, Gonzalez de Alba Cesar, Gregor Ashley, Harding Cary O, Gillingham Melanie B, Vinocur Jeffrey M

Abstract excerpt

PURPOSE: Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD) is a rare fatty acid oxidation disorder characterized by recurrent episodes of metabolic decompensation and rhabdomyolysis, as well as retinopathy, peripheral neuropathy, and cardiac involvement, such as infantile dilated cardiomyopathy. Because LCHADD patients are surviving longer, we sought to characterize LCHADD-associated major...

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Source

Identifiers

PMID: 38501492
DOI: 10.1016/j.gim.2024.101123

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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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