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Results 1 - 7 of 7 for "3-methylglutaconic" aciduria type 9
  1. MEGDEL syndrome 
    ... hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J Med Genet A. 2013 Sep;161A(9):2204-15. doi: 10.1002/ajmg.a.36059. ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  2. SERAC1 gene 
    ... hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J Med Genet A. 2013 Sep;161A(9):2204-15. doi: 10.1002/ajmg.a.36059. ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
  3. AUH gene 
    ... homolog of enoyl-CoA hydratase. Structure. 2001 Dec;9(12):1253-63. doi: ... gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003 Apr;21(4):401- ...
    https://medlineplus.gov/genetics/gene/auh - Genetics
  4. Costeff syndrome 
    ... not show signs and symptoms of the condition. 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  5. CLPB deficiency 
    ... not show signs and symptoms of the condition. 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type VII 3-methylglutaconic aciduria with cataracts, neurologic involvement ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  6. Barth syndrome 
    ... cannot pass X-linked traits to their sons. 3 methylglutaconic aciduria, type II 3-methylglutaconic aciduria type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  7. OPA3 gene 
    ... B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics