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Article

Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation.

Journal of inherited metabolic disease - 1 Jan 2005

Blois B, Riddell C, Dooley K, Dyack S

Abstract excerpt

Medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency is the most commonly inherited defect of fatty acid oxidation. This autosomal recessive disorder is characterized by the tendency to become profoundly hypoglycaemic under fasting stress conditions, leading to lethargy, coma, brain injury and/or death. The most common mutation resulting in MCAD deficiency ascertained through individuals of northern...

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Source

Identifiers

PMID: 15902558
DOI: 10.1007/s10545-005-0551-6

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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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Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation.PMID 15902558Read ↗

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.Semantic proximity Read ↗

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: genotype-biochemical phenotype correlations.Semantic proximity Read ↗

Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants.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 ↗

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.Semantic proximity Read ↗

MCAD deficiency in Denmark.Semantic proximity Read ↗

Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.Semantic proximity Read ↗

Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?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 ↗

Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.Semantic proximity Read ↗

Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.Semantic proximity Read ↗

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