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Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.

Clinical genetics - 1 Jun 2023

Weiss Katharina J, Berger Ursula, Haider Maliha, Wagner Matias, Märtner E M Charlotte, Regenauer-Vandewiele Stephanie, Lotz-Havla Amelie, Schuhmann Elfriede, Röschinger Wulf, Maier Esther M

Abstract excerpt

Biallelic variants in the ACADM gene cause medium-chain acyl-CoA dehydrogenase deficiency (MCADD). This study reports on differences in the occurrence of secondary free carnitine (C0) deficiency and different biochemical phenotypes related to genotype and age in 109 MCADD patients followed-up at a single tertiary care center during 22 years. C0 deficiency occurred earlier and more frequently in c.985A>G...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36840705
DOI: 10.1111/cge.14316

Provenance

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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