3-Methylcrotonyl-CoA carboxylase 2 deficiency

Term ID

DOID:0080580

Synonyms

Definition

A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13. https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency

References

• MESH:C535309
• OMIM:210210

Ontology

Human Disease   ( DOID:0080580 )