{
  "url": "https://dantelabs.com/traits/hyperisoleucinemia",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "hyperisoleucinemia",
    "id": "HP:0010913",
    "name": "High blood isoleucine concentration",
    "label": "Hyperisoleucinemia",
    "definition": "The concentration of isoleucine in the blood circulation is above the upper limit of normal.",
    "synonyms": [
      "Elevated isoleucine concentration",
      "Elevated isoleucine level",
      "Elevated isoleucine level in blood",
      "Increased isoleucine concentration",
      "Increased isoleucine level",
      "Increased isoleucine level in blood"
    ],
    "systems": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-circulating-isoleucine-concentration",
        "name": "Abnormal circulating isoleucine concentration",
        "url": "https://dantelabs.com/traits/abnormal-circulating-isoleucine-concentration"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "atp5f1b",
        "symbol": "ATP5F1B",
        "hgnc": "HGNC:830",
        "name": "ATP synthase F1 subunit beta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp5f1b"
      },
      {
        "slug": "bcat2",
        "symbol": "BCAT2",
        "hgnc": "HGNC:977",
        "name": "branched chain amino acid transaminase 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bcat2"
      },
      {
        "slug": "bckdhb",
        "symbol": "BCKDHB",
        "hgnc": "HGNC:987",
        "name": "branched chain keto acid dehydrogenase E1 subunit beta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bckdhb"
      },
      {
        "slug": "ppm1k",
        "symbol": "PPM1K",
        "hgnc": "HGNC:25415",
        "name": "protein phosphatase, Mg2+/Mn2+ dependent 1K",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ppm1k"
      },
      {
        "slug": "dld",
        "symbol": "DLD",
        "hgnc": "HGNC:2898",
        "name": "dihydrolipoamide dehydrogenase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dld"
      }
    ]
  }
}