Miscellaneous Metabolic Disorders
Gene: MCCC1
3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inborn defect of leucine catabolism caused by biallelic variants in MCCC1 or MCCC2. 3-MCCD is considered to be a relatively benign disorder with a favourable outcome. In a Chinese study, 53 cases with 3-MCCD identified by NBS had no clinical symptoms. 23/53 patients had secondary carnitine deficiency. 28 had biallelic variants in MCCC1 and 25 had biallelic variants in MCCC2.Created: 20 Sep 2023, 12:42 a.m. | Last Modified: 20 Sep 2023, 12:42 a.m.
Panel Version: 1.30
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias
Publications
Publications for gene: MCCC1 were set to 27604308; 11170888
Gene: mccc1 has been classified as Green List (High Evidence).
Gene: mccc1 has been classified as Green List (High Evidence).
gene: MCCC1 was added gene: MCCC1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC1 were set to 27604308; 11170888 Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias Review for gene: MCCC1 was set to GREEN gene: MCCC1 was marked as current diagnostic