ArticleGenetics and molecular biology
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl.
Article in Genetics and molecular biology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- 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
- Newborn screening and genetic diagnosis of 3-methylcrotonyl-CoA carboxylase deficiency in Quanzhou,China.Molecular genetics and metabolism reports · 2024Article
- MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer.Cellular & molecular biology letters · 2023Article
- Profiling of RNA-binding Proteins Interacting With Glucagon and Adipokinetic Hormone mRNAs.Journal of lipid and atherosclerosis · 2022Article
- Metabolic Therapy of Heart Failure: Is There a Future for B Vitamins?International journal of molecular sciences · 2021Review
- The snapshot of metabolic health in evaluating micronutrient status, the risk of infection and clinical outcome of COVID-19.Clinical nutrition ESPEN · 2021Review
- Methylcrotonoyl-CoA Carboxylase 2 Promotes Proliferation, Migration and Invasion and Inhibits Apoptosis of Prostate Cancer Cells Through Regulating GLUD1-P38 MAPK Signaling Pathway.OncoTargets and therapy · 2020Article
- Surgical Repair of Atrial Septal Defect in a Patient with 3-Methylcrotonyl-CoA Carboxylase Deficiency.Heart views : the official journal of the Gulf Heart AssociationArticle
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
3-Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine catabolism. Its deficiency, due to mutations on MCCC1 and MCCC2 genes, leads to accumulation of 3-methylcrotonyl-CoA metabolites in blood and/or urine, primarily 3-hydroxyisovaleryl-carnitine (C5-OH) in plasma and 3-methylcrotonyl-glycine (3-MCG) and 3-hydroxyisovaleric acid (3-HIVA) in the urine. The phenotype of 3-MCC deficiency is highly variable, ranging from severe neurological abnormalities and death in infancy to asymptomatic adults. Here we report the biochemical and molecular characterization of an Italian asymptomatic girl, positive for the newborn screening test. Molecular analysis showed two mutations in the MCCC2 gene, an already described missense mutation, c.691A > T (p.I231F), and a novel splicing mutation, c.1150-1G > A. We characterized the expression profile of the splice mutation by functional studies.
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