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Results 1 - 9 of 9 for "3-Methylglutaconic" aciduria type 3
  1. 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
  2. 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
  3. 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
  4. 3-methylglutaconyl-CoA hydratase deficiency 
    ... not show signs and symptoms of the condition. 3-methylglutaconic aciduria, type I 3-MG-CoA-hydratase deficiency AUH defect ... MGCA1 Primary 3-methylglutaconic aciduria Genetic Testing Registry: 3-Methylglutaconic aciduria type 1 3-methylglutaconic aciduria type 1 National Organization ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  5. Dilated cardiomyopathy with ataxia syndrome 
    ... not show signs and symptoms of the condition. 3-methylglutaconic aciduria type V DCMA DCMA syndrome DNAJC19 defect MGA type V MGA5 MGCA5 Genetic Testing Registry: 3-methylglutaconic aciduria type 5 Dilated cardiomyopathy with ataxia National Organization for ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  6. MEGDEL syndrome 
    ... not show signs and symptoms of the condition. 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, and Leigh-like ... hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  7. AUH gene 
    ... Ruiter JP, Duran M, Lehnert W, Wanders RJ. 3-Methylglutaconic aciduria type I is caused by mutations in AUH. Am ... Zschocke J. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003 Apr;21(4):401- ...
    https://medlineplus.gov/genetics/gene/auh - Genetics
  8. 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
  9. 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 ... a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013 Sep-Oct;110( ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics