Miscellaneous Metabolic Disorders
Gene: MCEE
Over 10 cases with biallelic variants reported. Methylmalonic acidemia is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid and peptide metabolism.
Sources: NHS GMSCreated: 5 Feb 2021, 11:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Methylmalonyl-CoA epimerase deficiency MIM#251120; Organic acidurias
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: mcee has been classified as Green List (High Evidence).
Gene: mcee has been classified as Green List (High Evidence).
gene: MCEE was added gene: MCEE was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCEE were set to 27604308; 16752391; 32521958; 31146325; 32719376; 30682498 Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency MIM#251120; Organic acidurias Review for gene: MCEE was set to GREEN gene: MCEE was marked as current diagnostic