BabyScreen+ newborn screening
Gene: MCEE

MCEE (methylmalonyl-CoA epimerase)
EnsemblGeneIds (GRCh38): ENSG00000124370
EnsemblGeneIds (GRCh37): ENSG00000124370
OMIM: 608419, Gene2Phenotype
MCEE is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.

Onset ranges from the neonatal period to adulthood. All phenotypes demonstrate periods of relative health and intermittent metabolic decompensation, usually associated with intercurrent infections and stress. Episodes of catabolic stress are associated with rapid production and accumulation of toxic metabolites which can cause decompensation, and lead to life threatening complications.

Treatment: carnitine and diet.
Created: 30 Dec 2022, 1:55 a.m. | Last Modified: 30 Dec 2022, 1:55 a.m.

Panel Version: 0.1773

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methylmalonyl-CoA epimerase deficiency MIM#251120

Created: 30 Dec 2022, 1:55 a.m.
Last Modified: 30 Dec 2022, 1:55 a.m.
Panel version: 0.1773

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BabySeq Category C gene

Phenotypes

Methylmalonyl-CoA epimerase deficiency MIM#251120

Tags

treatable metabolic

OMIM

608419

Clinvar variants

Variants in MCEE

Penetrance

None

Panels with this gene