Aminoacidopathy

Gene: MCCC1

Green List (high evidence)

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, 12:41 a.m. | Last Modified: 20 Sep 2023, 12:41 a.m.

Panel Version: 1.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias

Publications

• 36822454
• 31730530

Green List (high evidence)

Variants in this gene cause a biochemical defect. The relationship to clinical phenotype has been questioned by NBS programs, PMID 31730530

Created: 17 May 2022, 9:50 a.m. | Last Modified: 17 May 2022, 9:50 a.m.

Panel Version: 0.14432

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias

Publications

• 31730530