methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Findings
No curated finding names methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.
Definition from the Mondo Disease Ontology (MONDO:0009615), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DehydrationHPOHP:0001944
- 1 of 1 reported patient
- Elevated circulating palmitoleylcarnitine concentrationHPOHP:0031544
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- KetonuriaHPOHP:0002919
- 1 of 1 reported patient
- Metabolic acidosisHPOHP:0001942
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MCEEHGNC:16732
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- Also called
- MCEE deficiencymethylmalonic acidemia due to methylmalonyl-CoA racemase deficiencymethylmalonic aciduria due to methylmalonyl-CoA epimerase deficiencymethylmalonic aciduria due to methylmalonyl-CoA racemase deficiency