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[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme].

Nederlands tijdschrift voor geneeskunde - 30 Oct 2004

Derks T G, Jakobs H, Gerding A, Niezen-Koning K E, Reijngoud D J, Smit G P A

Abstract excerpt

In a trial running since October 2003 in the Dutch provinces of Friesland, Groningen, Drenthe and Overijssel neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency has been added to the regular newborn screening programme for phenylketonuria, congenital hypothyroidism and adrenogenital syndrome. One of the questions to be answered by this trial is the cause of the strong variation in...

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Identifiers

PMID: 15559414

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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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[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme].PMID 15559414Read ↗

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[Neonatal screening for metabolic diseases: need for efficacy studies].Semantic proximity Read ↗

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.Semantic proximity Read ↗

[Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency].Semantic proximity Read ↗

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.Semantic proximity Read ↗

The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.Semantic proximity Read ↗

Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].Semantic proximity Read ↗

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.Semantic proximity Read ↗

The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.Semantic proximity Read ↗

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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.Semantic proximity Read ↗

[Medium-chain acyl-CoA dehydrogenase deficiency: contribution of molecular biology].Semantic proximity Read ↗

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