| H00181 | |
| H number | H00181 |
| Name | 3-Methylcrotonylglycinuria; 3-Methylcrotonyl-CoA carboxylase deficiency |
| Description | 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism with a variable phenotype. |
| Category | Inherited metabolic disorder |
| Network | nt06024(H00181) Valine, leucine and isoleucine degradation |
| Gene | MCCC1; 3-methylcrotonyl-CoA carboxylase alpha subunit [HSA:56922] [KO:K01968] MCCC2; 3-methylcrotonyl-CoA carboxylase beta subunit [HSA:64087] [KO:K01969] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C50.E0 ICD-10: E71.1 MeSH: C535308 C535309 OMIM: 210200 210210 |
| Reference | PMID:16010683 AUTHORS Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, Baumgartner MR TITLE 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. JOURNAL Hum Mutat 26:164 (2005) DOI:10.1002/humu.9352 PMID:15868465 AUTHORS Baumgartner MR TITLE Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. JOURNAL J Inherit Metab Dis 28:301-9 (2005) DOI:10.1007/s10545-005-7054-3 PMID:11181649 AUTHORS Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D TITLE The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. JOURNAL J Clin Invest 107:495-504 (2001) DOI:10.1172/JCI11948 |