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Trait
Increased circulating pyruvate concentration
The concentration of pyruvate in the blood circulation is above the upper limit of normal.
Summary
- Also called
- Increased serum pyruvate, Increased serum pyruvic acid
- Body system
- Laboratory abnormality
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Read the genes linked to Increased circulating pyruvate concentration, and the rest of your genome, with one test.
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Get my Genome Test65 genes linked to Increased circulating pyruvate concentration
Changes in these genes cause rare conditions in which Increased circulating pyruvate concentration 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 |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Always | In 2 conditions |
| COX16cytochrome c oxidase assembly factor COX16 | Always | In 1 condition |
| COX18cytochrome c oxidase assembly factor COX18 | Always | In 1 condition |
| COX6A2cytochrome c oxidase subunit 6A2 | Always | In 1 condition |
| DLDdihydrolipoamide dehydrogenase | Always | In 1 condition |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Always | In 2 conditions |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Always | In 2 conditions |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Always | In 2 conditions |
| PNPLA8patatin like domain 8, phospholipase A2 | Always | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Always | In 1 condition |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Always | In 1 condition |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Very often (80–99%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Very often (80–99%) | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Very often (80–99%) | In 1 condition |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Very often (80–99%) | In 1 condition |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Very often (80–99%) | In 1 condition |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Very often (80–99%) | In 1 condition |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Very often (80–99%) | In 1 condition |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Very often (80–99%) | In 1 condition |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Very often (80–99%) | In 1 condition |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Very often (80–99%) | In 1 condition |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Very often (80–99%) | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Very often (80–99%) | In 1 condition |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Very often (80–99%) | In 1 condition |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Very often (80–99%) | In 1 condition |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Very often (80–99%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Very often (80–99%) | In 1 condition |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Very often (80–99%) | In 1 condition |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Very often (80–99%) | In 1 condition |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Very often (80–99%) | In 1 condition |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Very often (80–99%) | In 1 condition |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Very often (80–99%) | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Very often (80–99%) | In 1 condition |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Very often (80–99%) | In 1 condition |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Very often (80–99%) | In 1 condition |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Very often (80–99%) | In 1 condition |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Very often (80–99%) | In 1 condition |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Very often (80–99%) | In 1 condition |
| TMEM126Btransmembrane protein 126B | Very often (80–99%) | In 1 condition |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Often (30–79%) | In 1 condition |
Show 25 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| LIPT2lipoyl(octanoyl) transferase 2 | Often (30–79%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Often (30–79%) | In 1 condition |
| MPV17mitochondrial inner membrane protein MPV17 | Often (30–79%) | In 1 condition |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Often (30–79%) | In 2 conditions |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Often (30–79%) | In 1 condition |
| BOLA3bolA family member 3 | Sometimes (5–29%) | In 1 condition |
| KARS1lysyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Sometimes (5–29%) | In 1 condition |
| PITRM1pitrilysin metallopeptidase 1 | Sometimes (5–29%) | In 1 condition |
| SLC25A26solute carrier family 25 member 26 | Sometimes (5–29%) | In 1 condition |
| ACAT2acetyl-CoA acetyltransferase 2 | Not recorded | In 1 condition |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Not recorded | In 1 condition |
| LDHAlactate dehydrogenase A | Not recorded | In 1 condition |
| MPC1mitochondrial pyruvate carrier 1 | Not recorded | In 1 condition |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Not recorded | In 1 condition |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Not recorded | In 1 condition |
| MT-TImitochondrially encoded tRNA-Ile (AUU/C) | Not recorded | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Not recorded | In 1 condition |
| MT-TPmitochondrially encoded tRNA-Pro (CCN) | Not recorded | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Not recorded | In 1 condition |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Not recorded | In 1 condition |
| PCpyruvate carboxylase | Not recorded | In 1 condition |
| PDHXpyruvate dehydrogenase complex component X | Not recorded | In 1 condition |
| TWNKtwinkle mtDNA helicase | 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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