Trait
Methylmalonic acidemia
The concentration of methylmalonic acid in the blood circulation is above the upper limit of normal.
Summary
- Also called
- Elevated circulating methylmalonic acid concentration, Elevated methylmalonic acid concentration, Elevated methylmalonic acid level, Elevated methylmalonic acid level in blood, Increased methylmalonic acid concentration, Increased methylmalonic acid level, Increased methylmalonic acid level in blood
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Methylmalonic acidemia, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test15 genes linked to Methylmalonic acidemia
Changes in these genes cause rare conditions in which Methylmalonic acidemia is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ABCD4ATP binding cassette subfamily D member 4 | Always | In 1 condition |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Always | In 1 condition |
| CD320CD320 molecule | Always | In 1 condition |
| HCFC1host cell factor C1 | Always | In 1 condition |
| LMBRD1LMBR1 domain containing 1 | Always | In 1 condition |
| MMABmetabolism of cobalamin associated B | Always | In 1 condition |
| MMUTmethylmalonyl-CoA mutase | Always | In 1 condition |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Always | In 1 condition |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Always | In 1 condition |
| ACSF3acyl-CoA synthetase family member 3 | Very often (80–99%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Very often (80–99%) | In 2 conditions |
| PRDX1peroxiredoxin 1 | Very often (80–99%) | In 1 condition |
| CBLIFcobalamin binding intrinsic factor | Often (30–79%) | In 1 condition |
| MMAAmetabolism of cobalamin associated A | Not recorded | In 1 condition |
| MMADHCmetabolism of cobalamin associated D | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks