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3-Methylcrotonyl-CoA carboxylase 1 deficiency
Summary
- Definition
- A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27.
- Super Class
- 3-methylcrotonyl-CoA carboxylase deficiency
External Links
- Disease Ontology
- DOID:0080579
- Mondo Disease Ontology
- MeSH
- OMIM
- WikiPathways (from TogoID)
