combined malonic and methylmalonic acidemia
Findings
No curated finding names combined malonic and methylmalonic acidemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.
Definition from the Mondo Disease Ontology (MONDO:0013661), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
26 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.
- Dicarboxylic acidemiaHPOHP:0040145
- Very frequent (80% to 99% of cases)
- Elevated urinary dicarboxylic acid levelHPOHP:0003215
- Very frequent (80% to 99% of cases)
- Methylmalonic acidemiaHPOHP:0002912
- Very frequent (80% to 99% of cases)
- Methylmalonic aciduriaHPOHP:0012120
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- AcidosisHPOHP:0001941
- Occasional (5% to 29% of cases)
- Atypical behavior
Show the remaining 14
- EncephalopathyHPOHP:0001298
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
- Focal impaired awareness seizureHPOHP:0002384
- Occasional (5% to 29% of cases)
- Generalized clonic seizureHPOHP:0011169
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- HypoglycemiaHPOHP:0001943
- Occasional (5% to 29% of cases)
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.
- ACSF3HGNC:27288
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: combined malonic and methylmalonic acidemia
- Also called
- CMAMMAcombined malonic and methylmalonic aciduria