ArticleAmerican journal of human genetics2001
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 87 citations in OpenAlex.
- A Slc5a6-deficient mouse model reveals metabolically driven cardiomyopathy with therapeutic potential for vitamin-based intervention.JCI insight · 2026Article
- Mitochondrial β-carbonic anhydrase is a conserved metabolic rheostat for branched-chain amino acid catabolism and metabolic flexibility.The New phytologist · 2026Article
- Inhibition of MCCC2 Impedes TNBC Progression by Downregulating Leucine Metabolism-Dependent mTOR Signaling.Breast cancer (Dove Medical Press) · 2026Article
- Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience.International journal of neonatal screening · 2025Article
- Challenges and Opportunities in Characterizing the Genetics of Stuttering: From Sample Acquisition to Functional Interpretation of the Genome.Journal of speech, language, and hearing research : JSLHR · 2025Review
- Physicochemical properties, aroma compounds, non-volatile metabolites and their potential correlation inFood chemistry: X · 2025Article
- Structural insight into synergistic activation of human 3-methylcrotonyl-CoA carboxylase.Nature structural & molecular biology · 2025Article
- 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
- The cryo-EM structure of trypanosome 3-methylcrotonyl-CoA carboxylase provides mechanistic and dynamic insights into its enzymatic function.Structure (London, England : 1993) · 2024Article
- Exploring the molecular and clinical spectrum of COVID-19-related acute necrotizing encephalopathy in three pediatric cases.Journal of human genetics · 2023Article
- Discovery, structure, and function of filamentous 3-methylcrotonyl-CoA carboxylase.Structure (London, England : 1993) · 2023Article
- Duodenal Metabolic Profile Changes in Heat-Stressed Broilers.Animals : an open access journal from MDPI · 2022Article
- Intracranial Calcification Associated with 3-Methylcrotonyl-CoA Carboxylase Deficiency.Molecular syndromology · 2021Article
- MCCC2 promotes HCC development by supporting leucine oncogenic function.Cancer cell international · 2021Article
- Leucine regulates autophagy via acetylation of the mTORC1 component raptor.Nature communications · 2020Article
- Polymorphisms ofParkinson's disease · 2019Article
- Expression Quantitative Trait Loci in Equine Skeletal Muscle Reveals Heritable Variation in Metabolism and the Training Responsive Transcriptome.Frontiers in genetics · 2019Article
- Article
- Methylcrotonoyl-CoA carboxylase 1 potentiates RLR-induced NF-κB signaling by targeting MAVS complex.Scientific reports · 2016Article
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Authors and funding
16 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
3-Methylcrotonylglycinuria is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). The introduction of tandem mass spectrometry in newborn screening has revealed an unexpectedly high incidence of this disorder, which, in certain areas, appears to be the most frequent organic aciduria. MCC, an heteromeric enzyme consisting of alpha (biotin-containing) and beta subunits, is the only one of the four biotin-dependent carboxylases known in humans that has genes that have not yet been characterized, precluding molecular studies of this disease. Here we report the characterization, at the genomic level and at the cDNA level, of both the MCCA gene and the MCCB gene, encoding the MCC alpha and MCC beta subunits, respectively. The 19-exon MCCA gene maps to 3q25-27 and encodes a 725-residue protein with a biotin attachment site; the 17-exon MCCB gene maps to 5q12-q13 and encodes a 563-residue polypeptide. We show that disease-causing mutations can be classified into two complementation groups, denoted "CGA" and "CGB." We detected two MCCA missense mutations in CGA patients, one of which leads to absence of biotinylated MCC alpha. Two MCCB missense mutations and one splicing defect mutation leading to early MCC beta truncation were found in CGB patients. A fourth MCCB mutation also leading to early MCC beta truncation was found in two nonclassified patients. A fungal model carrying an mccA null allele has been constructed and was used to demonstrate, in vivo, the involvement of MCC in leucine catabolism. These results establish that 3-methylcrotonylglycinuria results from loss-of-function mutations in the genes encoding the alpha and beta subunits of MCC and complete the genetic characterization of the four human biotin-dependent carboxylases.
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