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Article

MCAD deficiency in Denmark.

Molecular genetics and metabolism - 1 Jun 2012

Andresen Brage Storstein, Lund Allan Meldgaard, Hougaard David Michael, Christensen Ernst, Gahrn Birthe, Christensen Mette, Bross Peter, Vested Anne, Simonsen Henrik, Skogstrand Kristin, Olpin Simon, Brandt Niels Jacob, Skovby Flemming, Nørgaard-Pedersen Bent, Gregersen Niels

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of fatty acid oxidation. Many countries have introduced newborn screening for MCADD, because characteristic acylcarnitines can easily be identified in filter paper blood spot samples by tandem mass spectrometry (MS/MS), because MCADD is a frequent disease, and because of the success of early treatment initiated before clinical...

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PMID: 22542437
DOI: 10.1016/j.ymgme.2012.03.018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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