Trait
Ethylmalonic aciduria
The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Summary
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test10 genes linked to Ethylmalonic aciduria
Changes in these genes cause rare conditions in which Ethylmalonic aciduria 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 |
|---|---|---|
| ETHE1ETHE1 persulfide dioxygenase | Always | In 2 conditions |
| ACADSacyl-CoA dehydrogenase short chain | Often (30–79%) | In 2 conditions |
| COX16cytochrome c oxidase assembly factor COX16 | Often (30–79%) | In 1 condition |
| HSPD1heat shock protein family D (Hsp60) member 1 | Often (30–79%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Rarely (1–4%) | In 1 condition |
| ETFAelectron transfer flavoprotein subunit alpha | Not recorded | In 1 condition |
| ETFBelectron transfer flavoprotein subunit beta | Not recorded | In 1 condition |
| ETFDHelectron transfer flavoprotein dehydrogenase | Not recorded | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | 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.
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