{
  "url": "https://dantelabs.com/traits/increased-circulating-pyruvate-concentration",
  "trait": {
    "bundleId": "2026.10.19-9814e911",
    "release": "2026-09-01",
    "slug": "increased-circulating-pyruvate-concentration",
    "id": "HP:0003542",
    "name": "Increased circulating pyruvate concentration",
    "definition": "The concentration of pyruvate in the blood circulation is above the upper limit of normal.",
    "synonyms": [
      "Increased serum pyruvate",
      "Increased serum pyruvic acid"
    ],
    "systems": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-circulating-monocarboxylic-acid-concentration",
        "name": "Abnormal circulating monocarboxylic acid concentration",
        "url": "https://dantelabs.com/traits/abnormal-circulating-monocarboxylic-acid-concentration"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "aifm1",
        "symbol": "AIFM1",
        "hgnc": "HGNC:8768",
        "name": "apoptosis inducing factor mitochondria associated 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/aifm1"
      },
      {
        "slug": "cox16",
        "symbol": "COX16",
        "hgnc": "HGNC:20213",
        "name": "cytochrome c oxidase assembly factor COX16",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox16"
      },
      {
        "slug": "cox18",
        "symbol": "COX18",
        "hgnc": "HGNC:26801",
        "name": "cytochrome c oxidase assembly factor COX18",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox18"
      },
      {
        "slug": "cox6a2",
        "symbol": "COX6A2",
        "hgnc": "HGNC:2279",
        "name": "cytochrome c oxidase subunit 6A2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox6a2"
      },
      {
        "slug": "dld",
        "symbol": "DLD",
        "hgnc": "HGNC:2898",
        "name": "dihydrolipoamide dehydrogenase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dld"
      },
      {
        "slug": "ndufs8",
        "symbol": "NDUFS8",
        "hgnc": "HGNC:7715",
        "name": "NADH:ubiquinone oxidoreductase core subunit S8",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ndufs8"
      },
      {
        "slug": "ndufv1",
        "symbol": "NDUFV1",
        "hgnc": "HGNC:7716",
        "name": "NADH:ubiquinone oxidoreductase core subunit V1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ndufv1"
      },
      {
        "slug": "pdha1",
        "symbol": "PDHA1",
        "hgnc": "HGNC:8806",
        "name": "pyruvate dehydrogenase E1 subunit alpha 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pdha1"
      },
      {
        "slug": "pnpla8",
        "symbol": "PNPLA8",
        "hgnc": "HGNC:28900",
        "name": "patatin like domain 8, phospholipase A2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnpla8"
      },
      {
        "slug": "sdhb",
        "symbol": "SDHB",
        "hgnc": "HGNC:10681",
        "name": "succinate dehydrogenase complex iron sulfur subunit B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sdhb"
      },
      {
        "slug": "uqcrc2",
        "symbol": "UQCRC2",
        "hgnc": "HGNC:12586",
        "name": "ubiquinol-cytochrome c reductase core protein 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/uqcrc2"
      },
      {
        "slug": "foxred1",
        "symbol": "FOXRED1",
        "hgnc": "HGNC:26927",
        "name": "FAD dependent oxidoreductase domain containing 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/foxred1"
      },
      {
        "slug": "mt-nd1",
        "symbol": "MT-ND1",
        "hgnc": "HGNC:7455",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd1"
      },
      {
        "slug": "mt-nd2",
        "symbol": "MT-ND2",
        "hgnc": "HGNC:7456",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd2"
      },
      {
        "slug": "mt-nd3",
        "symbol": "MT-ND3",
        "hgnc": "HGNC:7458",
        "name": "mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-nd3"
      },
      {
        "slug": "ndufa1",
        "symbol": "NDUFA1",
        "hgnc": "HGNC:7683",
        "name": "NADH:ubiquinone oxidoreductase subunit A1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa1"
      },
      {
        "slug": "ndufa11",
        "symbol": "NDUFA11",
        "hgnc": "HGNC:20371",
        "name": "NADH:ubiquinone oxidoreductase subunit A11",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa11"
      },
      {
        "slug": "ndufa6",
        "symbol": "NDUFA6",
        "hgnc": "HGNC:7690",
        "name": "NADH:ubiquinone oxidoreductase subunit A6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa6"
      },
      {
        "slug": "ndufa9",
        "symbol": "NDUFA9",
        "hgnc": "HGNC:7693",
        "name": "NADH:ubiquinone oxidoreductase subunit A9",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufa9"
      },
      {
        "slug": "ndufaf1",
        "symbol": "NDUFAF1",
        "hgnc": "HGNC:18828",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf1"
      },
      {
        "slug": "ndufaf2",
        "symbol": "NDUFAF2",
        "hgnc": "HGNC:28086",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf2"
      },
      {
        "slug": "ndufaf3",
        "symbol": "NDUFAF3",
        "hgnc": "HGNC:29918",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf3"
      },
      {
        "slug": "ndufaf4",
        "symbol": "NDUFAF4",
        "hgnc": "HGNC:21034",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf4"
      },
      {
        "slug": "ndufaf5",
        "symbol": "NDUFAF5",
        "hgnc": "HGNC:15899",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf5"
      },
      {
        "slug": "ndufaf8",
        "symbol": "NDUFAF8",
        "hgnc": "HGNC:33551",
        "name": "NADH:ubiquinone oxidoreductase complex assembly factor 8",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufaf8"
      },
      {
        "slug": "ndufb10",
        "symbol": "NDUFB10",
        "hgnc": "HGNC:7696",
        "name": "NADH:ubiquinone oxidoreductase subunit B10",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb10"
      },
      {
        "slug": "ndufb11",
        "symbol": "NDUFB11",
        "hgnc": "HGNC:20372",
        "name": "NADH:ubiquinone oxidoreductase subunit B11",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb11"
      },
      {
        "slug": "ndufb3",
        "symbol": "NDUFB3",
        "hgnc": "HGNC:7698",
        "name": "NADH:ubiquinone oxidoreductase subunit B3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb3"
      },
      {
        "slug": "ndufb9",
        "symbol": "NDUFB9",
        "hgnc": "HGNC:7704",
        "name": "NADH:ubiquinone oxidoreductase subunit B9",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufb9"
      },
      {
        "slug": "ndufs1",
        "symbol": "NDUFS1",
        "hgnc": "HGNC:7707",
        "name": "NADH:ubiquinone oxidoreductase core subunit S1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs1"
      },
      {
        "slug": "ndufs2",
        "symbol": "NDUFS2",
        "hgnc": "HGNC:7708",
        "name": "NADH:ubiquinone oxidoreductase core subunit S2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs2"
      },
      {
        "slug": "ndufs3",
        "symbol": "NDUFS3",
        "hgnc": "HGNC:7710",
        "name": "NADH:ubiquinone oxidoreductase core subunit S3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs3"
      },
      {
        "slug": "ndufs4",
        "symbol": "NDUFS4",
        "hgnc": "HGNC:7711",
        "name": "NADH:ubiquinone oxidoreductase subunit S4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs4"
      },
      {
        "slug": "ndufs6",
        "symbol": "NDUFS6",
        "hgnc": "HGNC:7713",
        "name": "NADH:ubiquinone oxidoreductase subunit S6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs6"
      },
      {
        "slug": "ndufs7",
        "symbol": "NDUFS7",
        "hgnc": "HGNC:7714",
        "name": "NADH:ubiquinone oxidoreductase core subunit S7",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufs7"
      },
      {
        "slug": "ndufv2",
        "symbol": "NDUFV2",
        "hgnc": "HGNC:7717",
        "name": "NADH:ubiquinone oxidoreductase core subunit V2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ndufv2"
      },
      {
        "slug": "nubpl",
        "symbol": "NUBPL",
        "hgnc": "HGNC:20278",
        "name": "NUBP iron-sulfur cluster assembly factor, mitochondrial",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nubpl"
      },
      {
        "slug": "timmdc1",
        "symbol": "TIMMDC1",
        "hgnc": "HGNC:1321",
        "name": "translocase of inner mitochondrial membrane domain containing 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/timmdc1"
      },
      {
        "slug": "tmem126b",
        "symbol": "TMEM126B",
        "hgnc": "HGNC:30883",
        "name": "transmembrane protein 126B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem126b"
      },
      {
        "slug": "cox10",
        "symbol": "COX10",
        "hgnc": "HGNC:2260",
        "name": "cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cox10"
      },
      {
        "slug": "lipt2",
        "symbol": "LIPT2",
        "hgnc": "HGNC:37216",
        "name": "lipoyl(octanoyl) transferase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lipt2"
      },
      {
        "slug": "lonp1",
        "symbol": "LONP1",
        "hgnc": "HGNC:9479",
        "name": "lon peptidase 1, mitochondrial",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lonp1"
      },
      {
        "slug": "mpv17",
        "symbol": "MPV17",
        "hgnc": "HGNC:7224",
        "name": "mitochondrial inner membrane protein MPV17",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpv17"
      },
      {
        "slug": "mt-tk",
        "symbol": "MT-TK",
        "hgnc": "HGNC:7489",
        "name": "mitochondrially encoded tRNA-Lys (AAA/G)",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mt-tk"
      },
      {
        "slug": "polg",
        "symbol": "POLG",
        "hgnc": "HGNC:9179",
        "name": "DNA polymerase gamma, catalytic subunit",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polg"
      },
      {
        "slug": "sco2",
        "symbol": "SCO2",
        "hgnc": "HGNC:10604",
        "name": "synthesis of cytochrome C oxidase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sco2"
      },
      {
        "slug": "bola3",
        "symbol": "BOLA3",
        "hgnc": "HGNC:24415",
        "name": "bolA family member 3",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bola3"
      },
      {
        "slug": "kars1",
        "symbol": "KARS1",
        "hgnc": "HGNC:6215",
        "name": "lysyl-tRNA synthetase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/kars1"
      },
      {
        "slug": "mecp2",
        "symbol": "MECP2",
        "hgnc": "HGNC:6990",
        "name": "methyl-CpG binding protein 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mecp2"
      },
      {
        "slug": "pitrm1",
        "symbol": "PITRM1",
        "hgnc": "HGNC:17663",
        "name": "pitrilysin metallopeptidase 1",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pitrm1"
      },
      {
        "slug": "slc25a26",
        "symbol": "SLC25A26",
        "hgnc": "HGNC:20661",
        "name": "solute carrier family 25 member 26",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc25a26"
      },
      {
        "slug": "acat2",
        "symbol": "ACAT2",
        "hgnc": "HGNC:94",
        "name": "acetyl-CoA acetyltransferase 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acat2"
      },
      {
        "slug": "bcs1l",
        "symbol": "BCS1L",
        "hgnc": "HGNC:1020",
        "name": "BCS1 ubiquinol-cytochrome c reductase complex chaperone",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcs1l"
      },
      {
        "slug": "ldha",
        "symbol": "LDHA",
        "hgnc": "HGNC:6535",
        "name": "lactate dehydrogenase A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ldha"
      },
      {
        "slug": "mpc1",
        "symbol": "MPC1",
        "hgnc": "HGNC:21606",
        "name": "mitochondrial pyruvate carrier 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpc1"
      },
      {
        "slug": "mt-tf",
        "symbol": "MT-TF",
        "hgnc": "HGNC:7481",
        "name": "mitochondrially encoded tRNA-Phe (UUU/C)",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tf"
      },
      {
        "slug": "mt-th",
        "symbol": "MT-TH",
        "hgnc": "HGNC:7487",
        "name": "mitochondrially encoded tRNA-His (CAU/C)",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-th"
      },
      {
        "slug": "mt-ti",
        "symbol": "MT-TI",
        "hgnc": "HGNC:7488",
        "name": "mitochondrially encoded tRNA-Ile (AUU/C)",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-ti"
      },
      {
        "slug": "mt-tl1",
        "symbol": "MT-TL1",
        "hgnc": "HGNC:7490",
        "name": "mitochondrially encoded tRNA-Leu (UUA/G) 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tl1"
      },
      {
        "slug": "mt-tp",
        "symbol": "MT-TP",
        "hgnc": "HGNC:7494",
        "name": "mitochondrially encoded tRNA-Pro (CCN)",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-tp"
      },
      {
        "slug": "mt-ts1",
        "symbol": "MT-TS1",
        "hgnc": "HGNC:7497",
        "name": "mitochondrially encoded tRNA-Ser (UCN) 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-ts1"
      },
      {
        "slug": "mt-ts2",
        "symbol": "MT-TS2",
        "hgnc": "HGNC:7498",
        "name": "mitochondrially encoded tRNA-Ser (AGU/C) 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mt-ts2"
      },
      {
        "slug": "pc",
        "symbol": "PC",
        "hgnc": "HGNC:8636",
        "name": "pyruvate carboxylase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pc"
      },
      {
        "slug": "pdhx",
        "symbol": "PDHX",
        "hgnc": "HGNC:21350",
        "name": "pyruvate dehydrogenase complex component X",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pdhx"
      },
      {
        "slug": "twnk",
        "symbol": "TWNK",
        "hgnc": "HGNC:1160",
        "name": "twinkle mtDNA helicase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/twnk"
      }
    ]
  }
}