ArticlePloS one2012
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 27 citations in OpenAlex.
- L-Carnitine and Chronic Kidney Disease: A Comprehensive Review on Nutrition and Health Perspectives.Journal of personalized medicine · 2023Review
- Case report: Diagnosis of a patient with Sifrim-Hitz-Weiss syndrome, development and epileptic encephalopathy-14, and medium chain acyl-CoA dehydrogenase deficiency.Frontiers in pediatrics · 2023Article
- Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.Journal of clinical medicine · 2022Article
- Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases.Journal of clinical medicine · 2021Review
- Article
- Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.Frontiers in genetics · 2021Article
- Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.Molecular genetics and metabolism reports · 2020Article
- The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).Journal of inherited metabolic disease · 2018Article
- Convert your favorite protein modeling program into a mutation predictor: "MODICT".BMC bioinformatics · 2016Article
- Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.BMC medical genetics · 2015Article
- Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T.Case reports in genetics · 2015Article
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.JIMD reports · 2015Article
- Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.Journal of inherited metabolic disease · 2014Article
- The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.PloS one · 2014Article
- Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.JIMD reports · 2014Article
- In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes.Orphanet journal of rare diseases · 2013Article
- Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.TheScientificWorldJournal · 2013Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited disorder of fatty acid metabolism presenting with hypoglycaemia, hepatopathy and Reye-like symptoms during catabolism. In the past, the majority of patients carried the prevalent c.985A>G mutation in the ACADM gene. Since the introduction of newborn screening many other mutations with unknown clinical relevance have been identified in asymptomatic newborns. In order to identify functional effects of these mutant genotypes we correlated residual MCAD (OMIM 607008) activities as measured by octanoyl-CoA oxidation in lymphocytes with both genotype and relevant medical reports in 65 newborns harbouring mutant alleles. We identified true disease-causing mutations with residual activities of 0 to 20%. In individuals carrying the c.199T>C or c.127G>A mutation on one allele, residual activities were much higher and in the range of heterozygotes (31%-60%). Therefore, both mutations cannot clearly be associated with a clinical phenotype. This demonstrates a correlation between the octanoyl-CoA oxidation rate in lymphocytes and the clinical outcome. With newborn screening, the natural course of disease is difficult to assess. The octanoyl-CoA oxidation rate, therefore, allows a risk assessment at birth and the identification of new ACADM genotypes associated with asymptomatic disease variants.
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