{
  "url": "https://dantelabs.com/traits/methylmalonic-aciduria",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "methylmalonic-aciduria",
    "id": "HP:0012120",
    "name": "Methylmalonic aciduria",
    "definition": "Increased concentration of methylmalonic acid in the urine.",
    "synonyms": [
      "High blood methylmalonic acid levels",
      "Methymalonicaciduria"
    ],
    "systems": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "abnormality-of-the-genitourinary-system",
        "name": "Abnormality of the genitourinary system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-genitourinary-system"
      }
    ],
    "broader": [
      {
        "slug": "elevated-urinary-dicarboxylic-acid-level",
        "name": "Elevated urinary dicarboxylic acid level",
        "url": "https://dantelabs.com/traits/elevated-urinary-dicarboxylic-acid-level"
      }
    ],
    "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": 2,
        "url": "https://dantelabs.com/genes/lmbrd1"
      },
      {
        "slug": "mcee",
        "symbol": "MCEE",
        "hgnc": "HGNC:16732",
        "name": "methylmalonyl-CoA epimerase",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mcee"
      },
      {
        "slug": "mmaa",
        "symbol": "MMAA",
        "hgnc": "HGNC:18871",
        "name": "metabolism of cobalamin associated A",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmaa"
      },
      {
        "slug": "mmab",
        "symbol": "MMAB",
        "hgnc": "HGNC:19331",
        "name": "metabolism of cobalamin associated B",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mmab"
      },
      {
        "slug": "mmadhc",
        "symbol": "MMADHC",
        "hgnc": "HGNC:25221",
        "name": "metabolism of cobalamin associated D",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mmadhc"
      },
      {
        "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": 2,
        "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": 2,
        "url": "https://dantelabs.com/genes/suclg1"
      },
      {
        "slug": "tcn2",
        "symbol": "TCN2",
        "hgnc": "HGNC:11653",
        "name": "transcobalamin 2",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tcn2"
      },
      {
        "slug": "thap11",
        "symbol": "THAP11",
        "hgnc": "HGNC:23194",
        "name": "THAP domain containing 11",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/thap11"
      },
      {
        "slug": "acsf3",
        "symbol": "ACSF3",
        "hgnc": "HGNC:27288",
        "name": "acyl-CoA synthetase family member 3",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/acsf3"
      },
      {
        "slug": "mlycd",
        "symbol": "MLYCD",
        "hgnc": "HGNC:7150",
        "name": "malonyl-CoA decarboxylase",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/mlycd"
      },
      {
        "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": "sfxn4",
        "symbol": "SFXN4",
        "hgnc": "HGNC:16088",
        "name": "sideroflexin 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sfxn4"
      },
      {
        "slug": "tamm41",
        "symbol": "TAMM41",
        "hgnc": "HGNC:25187",
        "name": "TAM41 mitochondrial translocator assembly and maintenance homolog",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tamm41"
      },
      {
        "slug": "cblif",
        "symbol": "CBLIF",
        "hgnc": "HGNC:4268",
        "name": "cobalamin binding intrinsic factor",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cblif"
      },
      {
        "slug": "etfa",
        "symbol": "ETFA",
        "hgnc": "HGNC:3481",
        "name": "electron transfer flavoprotein subunit alpha",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/etfa"
      },
      {
        "slug": "etfb",
        "symbol": "ETFB",
        "hgnc": "HGNC:3482",
        "name": "electron transfer flavoprotein subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/etfb"
      },
      {
        "slug": "etfdh",
        "symbol": "ETFDH",
        "hgnc": "HGNC:3483",
        "name": "electron transfer flavoprotein dehydrogenase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/etfdh"
      },
      {
        "slug": "iars2",
        "symbol": "IARS2",
        "hgnc": "HGNC:29685",
        "name": "isoleucyl-tRNA synthetase 2, mitochondrial",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/iars2"
      },
      {
        "slug": "prdx1",
        "symbol": "PRDX1",
        "hgnc": "HGNC:9352",
        "name": "peroxiredoxin 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prdx1"
      }
    ]
  }
}