3-methylcrotonyl-CoA carboxylase 1 deficiency

Definition

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.

Also known as 3-Methylcrotonyl-Coa carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1, MCCC1 3-methylcrotonyl-CoA carboxylase deficiency — per MONDO

Also identified as

• DOID 0080579 per MONDO
• MESH C535308 per MONDO
• OMIM 210200 per MONDO