Human genes for 3-Methylcrotonyl-CoA carboxylase 1 deficiency
3-Methylcrotonyl-CoA carboxylase 1 deficiency [DOID:0080579]
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.
Synonyms: 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 3MethylcrotonylCoA carboxylase 1 deficiency, DOID:0080579