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Article

Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?

Journal of inherited metabolic disease - 1 Jul 2021

Tucci Sara, Wagner Christine, Grünert Sarah C, Matysiak Uta, Weinhold Natalie, Klein Jeannette, Porta Francesco, Spada Marco, Bordugo Andrea, Rodella Giulia, Furlan Francesca, Sajeva Anna, Menni Francesca, Spiekerkoetter Ute

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of mitochondrial β-oxidation. Confirmation diagnostics after newborn screening (NBS) can be performed either by enzyme testing and/or by sequencing of the ACADM gene. Here, we report the results from enzyme testing in lymphocytes with gene variants from molecular analysis of the ACADM gene and with the initial acylcarnitine...

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Identifiers

PMID: 33580884
DOI: 10.1002/jimd.12368

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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