| Entry |
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| Name |
3-Methylcrotonylglycinuria;
3-Methylcrotonyl-CoA carboxylase deficiency |
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| Description |
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism with a variable phenotype.
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| Category |
Inherited metabolic disorder
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| Brite |
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 Inborn errors of amino acid or other organic acid metabolism
H00181 3-Methylcrotonylglycinuria
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06024 Valine, leucine and isoleucine degradation
H00181 3-Methylcrotonylglycinuria
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| Pathway |
| hsa00280 | Valine, leucine and isoleucine degradation |
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| Network |
nt06024 Valine, leucine and isoleucine degradation |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Dantas MF, Suormala T, Randolph A, Coelho D, Fowler B, Valle D, Baumgartner MR |
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| Title |
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. |
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| Journal |
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| Reference |
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| Authors |
Baumgartner MR |
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| Title |
Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency. |
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| Journal |
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| Reference |
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| Authors |
Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D |
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| Title |
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. |
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| Journal |
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| LinkDB |
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