Term Name: 3-methylcrotonyl-CoA carboxylase 1 deficiency
Synonyms:
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.
Ontology: Human Disease [DOID:0080579]   ( DOID:0080579 )

Relationships
is a type of: 3-methylcrotonyl-CoA carboxylase deficiency