Trait
Ketonuria
High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.
Summary
- Also called
- Ketonaciduria, Ketone bodies in urine
Reference genomeGRCh38hg38
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Get my Genome Test36 genes linked to Ketonuria
Changes in these genes cause rare conditions in which Ketonuria 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 |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Always | In 2 conditions |
| COX14cytochrome c oxidase assembly factor COX14 | Always | In 1 condition |
| CYC1cytochrome c1 | Always | In 1 condition |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Always | In 1 condition |
| FDX2ferredoxin 2 | Always | In 1 condition |
| MCEEmethylmalonyl-CoA epimerase | Always | In 1 condition |
| MMAAmetabolism of cobalamin associated A | Always | In 1 condition |
| PAX4paired box 4 | Always | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Always | In 1 condition |
| ACAT1acetyl-CoA acetyltransferase 1 | Very often (80–99%) | In 1 condition |
| TANGO2transport and golgi organization 2 homolog | Very often (80–99%) | In 2 conditions |
| COX16cytochrome c oxidase assembly factor COX16 | Often (30–79%) | In 1 condition |
| GCKglucokinase | Often (30–79%) | In 1 condition |
| GYS2glycogen synthase 2 | Often (30–79%) | In 1 condition |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Often (30–79%) | In 1 condition |
| INSinsulin | Often (30–79%) | In 1 condition |
| IVDisovaleryl-CoA dehydrogenase | Often (30–79%) | In 1 condition |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Often (30–79%) | In 2 conditions |
| OXCT13-oxoacid CoA-transferase 1 | Often (30–79%) | In 2 conditions |
| PDX1pancreatic and duodenal homeobox 1 | Often (30–79%) | In 1 condition |
| SLC16A1solute carrier family 16 member 1 | Often (30–79%) | In 1 condition |
| SLC2A2solute carrier family 2 member 2 | Often (30–79%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Often (30–79%) | In 1 condition |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Often (30–79%) | In 1 condition |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sometimes (5–29%) | In 2 conditions |
| LRPPRCleucine rich pentatricopeptide repeat containing | Sometimes (5–29%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Sometimes (5–29%) | In 1 condition |
| MTO1mitochondrial tRNA translation optimization 1 | Sometimes (5–29%) | In 1 condition |
| SLC25A13solute carrier family 25 member 13 | Sometimes (5–29%) | In 1 condition |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Sometimes (5–29%) | In 1 condition |
| CA5Acarbonic anhydrase 5A | Not recorded | In 1 condition |
| GCDHglutaryl-CoA dehydrogenase | Not recorded | In 1 condition |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Not recorded | In 1 condition |
| MCCC2methylcrotonyl-CoA carboxylase subunit 2 | Not recorded | In 1 condition |
| MMABmetabolism of cobalamin associated B | Not recorded | In 1 condition |
| PCK1phosphoenolpyruvate carboxykinase 1 | 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.
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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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