{
  "url": "https://dantelabs.com/traits/methylmalonic-acidemia",
  "trait": {
    "bundleId": "2026.10.18-8b139e39",
    "release": "2026-09-01",
    "slug": "methylmalonic-acidemia",
    "id": "HP:0002912",
    "name": "Methylmalonic acidemia",
    "definition": "The concentration of methylmalonic acid in the blood circulation is above the upper limit of normal.",
    "synonyms": [
      "Elevated circulating methylmalonic acid concentration",
      "Elevated methylmalonic acid concentration",
      "Elevated methylmalonic acid level",
      "Elevated methylmalonic acid level in blood",
      "Increased methylmalonic acid concentration",
      "Increased methylmalonic acid level",
      "Increased methylmalonic acid level in blood"
    ],
    "systems": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      }
    ],
    "broader": [
      {
        "slug": "dicarboxylic-acidemia",
        "name": "Dicarboxylic acidemia",
        "url": "https://dantelabs.com/traits/dicarboxylic-acidemia"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "abcd4",
        "symbol": "ABCD4",
        "hgnc": "HGNC:68",
        "name": "ATP binding cassette subfamily D member 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/abcd4"
      },
      {
        "slug": "aldh6a1",
        "symbol": "ALDH6A1",
        "hgnc": "HGNC:7179",
        "name": "aldehyde dehydrogenase 6 family member A1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aldh6a1"
      },
      {
        "slug": "cd320",
        "symbol": "CD320",
        "hgnc": "HGNC:16692",
        "name": "CD320 molecule",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cd320"
      },
      {
        "slug": "hcfc1",
        "symbol": "HCFC1",
        "hgnc": "HGNC:4839",
        "name": "host cell factor C1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hcfc1"
      },
      {
        "slug": "lmbrd1",
        "symbol": "LMBRD1",
        "hgnc": "HGNC:23038",
        "name": "LMBR1 domain containing 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lmbrd1"
      },
      {
        "slug": "mmab",
        "symbol": "MMAB",
        "hgnc": "HGNC:19331",
        "name": "metabolism of cobalamin associated B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmab"
      },
      {
        "slug": "mmut",
        "symbol": "MMUT",
        "hgnc": "HGNC:7526",
        "name": "methylmalonyl-CoA mutase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmut"
      },
      {
        "slug": "sucla2",
        "symbol": "SUCLA2",
        "hgnc": "HGNC:11448",
        "name": "succinate-CoA ligase ADP-forming subunit beta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sucla2"
      },
      {
        "slug": "suclg1",
        "symbol": "SUCLG1",
        "hgnc": "HGNC:11449",
        "name": "succinate-CoA ligase GDP/ADP-forming subunit alpha",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/suclg1"
      },
      {
        "slug": "acsf3",
        "symbol": "ACSF3",
        "hgnc": "HGNC:27288",
        "name": "acyl-CoA synthetase family member 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acsf3"
      },
      {
        "slug": "mmachc",
        "symbol": "MMACHC",
        "hgnc": "HGNC:24525",
        "name": "metabolism of cobalamin associated C",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mmachc"
      },
      {
        "slug": "prdx1",
        "symbol": "PRDX1",
        "hgnc": "HGNC:9352",
        "name": "peroxiredoxin 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prdx1"
      },
      {
        "slug": "cblif",
        "symbol": "CBLIF",
        "hgnc": "HGNC:4268",
        "name": "cobalamin binding intrinsic factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cblif"
      },
      {
        "slug": "mmaa",
        "symbol": "MMAA",
        "hgnc": "HGNC:18871",
        "name": "metabolism of cobalamin associated A",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmaa"
      },
      {
        "slug": "mmadhc",
        "symbol": "MMADHC",
        "hgnc": "HGNC:25221",
        "name": "metabolism of cobalamin associated D",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmadhc"
      }
    ]
  }
}