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3-methylcrotonyl CoA carboxylase 1 deficiency

A metabolic disorder caused by decreased activity of the 3-methylcrotonyl CoA carboxylase enzyme due to mutations in the MCCC1 gene. It is characterized primarily by progressive MUSCLE HYPOTONIA and atrophy, urinary extrection of 3-methylcrotonylglycine and of 3-hydroxyisovaleric acid, acute HYPERAMMONEMIA and KETOSIS. Affected infants may also experience a failure to thrive and feeding difficulties, seizures, developmental delay, and intellectual disability. Others may have no symptoms. OMIM: 210200
Also Known As:
3 Methylcrotonyl-CoA carboxylase deficiency; 3 Methylcrotonylglycinuria; 3 alpha methylcrotonylglycinuria 1; 3-Mcc Deficiency; 3-Methylcrotonyl-Coa Carboxylase Deficiency; 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency; 3-Methylcrotonylglycinuria; 3-Methylcrotonylglycinuria I; Bmcc Deficiency; Deficiency of Methylcrotonoyl-Coa Carboxylase; MCC1 Deficiency; MCCD Type 1; Mcc Deficiency; Methylcrotonyl-Coa Carboxylase Deficiency; Methylcrotonylglycinuria Type I; methylcrotonoyl-CoA carboxylase 1 deficiency
Networked: 48 relevant articles (1 outcomes, 1 trials/studies)

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Bio-Agent Context: Research Results

Experts

1. Gao, X L: 2 articles (06/2022 - 08/2007)
2. Gu, X F: 2 articles (06/2022 - 08/2007)
3. Han, L S: 2 articles (06/2022 - 08/2007)
4. Qiu, W J: 2 articles (06/2022 - 08/2007)
5. Shigematsu, Yosuke: 2 articles (07/2021 - 09/2018)
6. Hoffmann, Georg F: 2 articles (09/2018 - 01/2016)
7. Niu, Dau-Ming: 2 articles (09/2018 - 10/2010)
8. Baumgartner, Matthias R: 2 articles (08/2015 - 03/2008)
9. Chien, Yin-Hsiu: 2 articles (05/2013 - 10/2010)
10. Hwu, Wuh-Liang: 2 articles (05/2013 - 10/2010)

Related Diseases

1. Maple Syrup Urine Disease
01/01/2016 - "Over the last few years, detection has clearly improved for tyrosinaemia type I (39 % in 2008 to over 80 % in 2011/2014), maple syrup urine disease (85 % in 2005 to 98 % in 2012), hawkinsinuria (62 % in 2010 to 88 % in 2014), aminoacylase I deficiency (43 % in 2009 to 73 % in 2012) and 3-methylcrotonyl-CoA carboxylase deficiency (60 % in 2005 to 93 % by 2011). "
01/01/1982 - "Examples are the leucine degradation defects, all encountered in the authors' laboratory: branched-chain ketoaciduria; isovaleric acidaemia; 3-methylcrotonylglycinuria; 3-methylglutaconic aciduria; and 3-hydroxy-3-methylglutaric aciduria. "
12/17/2005 - "Because screening may lead to considerably better outcomes in affected newborns, the council recommends expanding current screening to include medium-chain acyl-CoA dehydrogenase deficiency, sickle-cell disease and 12 other rare disorders: biotinidase deficiency, galactosaemia, glutaricaciduria type I, HMG-CoA lyase deficiency, holocarboxylase-synthetase deficiency, homocystinuria, isovaleric-acidaemia, long-chain hydroxyacyl-CoA dehydrogenase deficiency, maple syrup urine disease, 3-methylcrotonyl-CoA carboxylase deficiency, tyrosinaemia I and very-long-chain acyl-CoA dehydrogenase deficiency. "
06/02/2022 - "A total of 32 types of IMD were detected among 2 461 patients, which included 10 amino acid disorders in 662 cases (26.9%), 6 common diseases were hyperphenylalaninemia, citrin deficiency, ornithine carbamoyltransferase deficiency, maple syrup urine disease, alkaptonuria, and tyrosinemia-I, 17 types of organic acidemias in 1 683 cases (68.4%), 6 common diseases were methylmalonic acidemia, propionic acidemia, valeric acidemia-type Ⅰ, isovaleric acidemia, 3-methylcrotonyl-CoA carboxylase deficiency and multiple carboxylase deficiency and 5 fatty acid β oxidative defects in 116 cases (4.7%), 2 common diseases were multiple acyl-CoA dehydrogenase deficiency and short-chain acyl-CoA dehydrogenase deficiency). "
11/01/2001 - "We identified 22 babies with amino acid disorders (7 phenylketonuria, 11 hyperphenylalaninemia, 1 maple syrup urine disease, 1 hypermethioninemia, 1 arginosuccinate lyase deficiency, and 1 argininemia) and 20 infants with fatty and organic acid disorders (10 medium-chain acyl-CoA dehydrogenase deficiencies, 5 presumptive short-chain acyl-CoA dehydrogenase deficiencies, 2 propionic acidemias, 1 carnitine palmitoyltransferase II deficiency, 1 methylcrotonyl-CoA carboxylase deficiency, and 1 presumptive very-long chain acyl-CoA dehydrogenase deficiency). "
2. Inborn Errors Metabolism (Inborn Errors of Metabolism)
3. Propionic Acidemia
4. Multiple Acyl Coenzyme A Dehydrogenase Deficiency
06/29/2022 - "For example, the CHRIS-enriched ETFDH stop gain variant p.Trp286Ter (rs1235904433-hexanoylcarnitine) and the MCCC2 stop lost variant p.Ter564GlnextTer3 (rs751970792-carnitine) have been found in patients with glutaric acidemia type II and 3-methylcrotonylglycinuria, respectively, but the loci have not been associated with the respective metabolites in a genome-wide association study (GWAS) previously. "
12/01/2008 - "Detection was poorer for other diseases such as glutaric aciduria type II, glyceric aciduria and, in one sample, 3-methylcrotonyl-CoA carboxylase deficiency. "
04/01/2023 - "Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, isovaleric acidemia, propionic academia, and isobutyryl-CoA dehydrogenase deficiency. "
10/11/2016 - "Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, isovaleric acidemia, propionic academia, and isobutyryl-CoA dehydrogenase deficiency. "
05/01/2005 - "Forty patients (4.0%) were diagnosed as organic acidemias among the 1000 patients, including 20 methylmalonic acidemia, 6 propionic acidemia, 3 isovaleric acidemia, 3 glutaric acidemia type I, 3 glutaric acidemia type II, 2 biotinidas deficiency, 1 3-methylcrotonyl-CoA carboxylase deficiency, 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, and 1 beta-keto thiolase deficiency. "
5. Medium chain acyl CoA dehydrogenase deficiency
02/01/2006 - "Medium-chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency and disorders of phenylalanine metabolism were the most common disorders detected. "
02/01/2009 - "The following disorders were detected: medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (1 case), 3-methylcrotonyl-CoA carboxylase (MCC) deficiency (2 cases), maternal carnitine transporter defect (2 cases), maternal MCC (1 case). "
09/01/2018 - "Frequently discovered diseases included propionic acidemia (PPA) and phenylketonuria (PKU) in Japan, 3-methylcrotonyl-CoA carboxylase deficiency (MCCD) and PKU in Taiwan, MCCD and citrullinemia type I in South Korea, and PKU and medium-chain acyl-CoA dehydrogenase deficiency in Germany. "
04/01/2023 - "Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, isovaleric acidemia, propionic academia, and isobutyryl-CoA dehydrogenase deficiency. "
10/11/2016 - "Quantitative analysis of urine acylglycines has shown to be a highly sensitive and specific method with proven clinical utility for the diagnosis of several inherited metabolic disorders including: medium chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 2-methylbutyryl-CoA dehydrogenase deficiency, isovaleric acidemia, propionic academia, and isobutyryl-CoA dehydrogenase deficiency. "

Related Drugs and Biologics

1. Hawkinsinuria
2. aminoacylase I (aminoacylase)
3. 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
4. Fatty Acids (Saturated Fatty Acids)
5. Coenzyme A (CoA)
6. Amino Acids
7. Lyases
8. Leucine (L-Leucine)
9. Carnitine (L-Carnitine)
10. Biotin (Vitamin H)