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Article

Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.

Molecular genetics and metabolism - 1 Jan 2020

Anderson Daniela R, Viau Krista, Botto Lorenzo D, Pasquali Marzia, Longo Nicola

Abstract excerpt

BACKGROUND: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency is a fatty acid oxidation disorder that can have variable clinical severity. There is still limited information on its clinical presentation and longitudinal history by genotype, and effectiveness of newborn screening (NBS). METHODS: Retrospective data were collected from 90 patients (44 female, 46 male) to compare biochemical data with clinical...

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Identifiers

PMID: 31836396
DOI: 10.1016/j.ymgme.2019.11.006

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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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