ArticleMolecular genetics and metabolism2016
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.
Article in Molecular genetics and metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.Journal of inherited metabolic disease · 2025Pooled it
- Immune Dysregulation in Branched Chain Organic Acidemias.Journal of inherited metabolic disease · 2026Review
- Benchmarking genetic birth prevalence estimates against newborn screening data.American journal of human genetics · 2026Article
- Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience.International journal of neonatal screening · 2025Article
- Data-driven consideration of genetic disorders for global genomic newborn screening programs.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran.Orphanet journal of rare diseases · 2025Article
- Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.Frontiers in pediatrics · 2025Article
- Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.Frontiers in genetics · 2025Article
- An acute life-threatening episode of rhabdomyolysis, renal failure, altered mental status and hyperammonemia in an adult with 3-methylcrotonyl-CoA carboxylase deficiency.Molecular genetics and metabolism reports · 2024Article
- Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program.Molecular genetics and metabolism reports · 2024Article
- An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test.Molecular genetics and metabolism reports · 2024Article
- Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China.Molecular genetics and metabolism reports · 2024Article
- Host-microbe interactions rewire metabolism in a C. elegans model of leucine breakdown deficiency.Nature metabolism · 2024Article
- Article
- A Case of Consanguinity.Global pediatric health · 2022Article
- Foundation of the Newborn Screening Translational Research Network and its tools for research.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.Frontiers in genetics · 2019Article
- Long-term follow-up in newborn screening: the role of collaboration.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.Genetics and molecular biologyArticle
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9 authors.
Funding
Abstract
introduction3-Methyl crotonyl CoA carboxylase (3MCC) deficiency is an inborn error of leucine metabolism whose detection was increased with the advent of expanded newborn screening. While most NBS-identified infants appear clinically normal, prior studies suggest a possible increased risk for developmental or metabolic abnormalities. As yet, no predictive markers are known that can identify children at risk for biochemical or developmental abnormalities.
methodAll available 3-MCC cases diagnosed by newborn screening in the Inborn Errors of Metabolism Information System (IBEM-IS) were reviewed for markers that might be predictive of outcome.
resultsA limited number of cases were identified with traditional biochemical symptoms including acidosis, hyperammonemia or lactic acidosis, and 15% of those with available developmental information had recorded developmental disabilities not clearly attributable to other causes. There was no correlation between newborn screening (NBS) C5OH level and presence of metabolic, newborn, later-life or developmental abnormalities in these cases. DISCUSSION: This sample, obtained from the IBEM-IS database, attempts to avoid some of the ascertainment bias present in retrospective studies. An increase in developmental abnormalities and in traditionally described metabolic symptoms remains apparent, although no specific biochemical markers appear predictive of outcome. The role that prevention of fasting plays in outcome cannot be ascertained. These data suggest that C5OH level found on newborn screening by itself is not sufficient for diagnostic or predictive purposes.
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