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Results 1 - 4 of 4 for "3-Methylglutaconic" aciduria
  1. AUH gene 
    ... Ruiter JP, Duran M, Lehnert W, Wanders RJ. 3-Methylglutaconic aciduria type I is caused by mutations in AUH. ... Zschocke J. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003 Apr;21(4): ...
    https://medlineplus.gov/genetics/gene/auh - Genetics
  2. CLPB gene 
    ... is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 May;52(5):303- ... CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  3. OPA3 gene 
    ... Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy ... B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
  4. SERAC1 gene 
    ... hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh- ... new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013 Sep-Oct;110(1- ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics