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Results 1 - 5 of 5 for "3-Methylglutaconic" aciduria type 2
  1. Barth syndrome 
    ... to their sons. 3 methylglutaconic aciduria, type II 3-methylglutaconic aciduria type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  2. Dilated cardiomyopathy with ataxia syndrome 
    ... chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006 May;43( ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  3. Costeff syndrome 
    ... B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Mol Genet Metab. 2010 Jun;100(2):149-54. doi: 10.1016/j.ymgme.2010. ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  4. MEGDEL syndrome 
    ... cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with ... Mol Genet Metab. 2013 Sep-Oct;110(1-2):73-7. doi: 10.1016/j.ymgme.2013. ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  5. CLPB deficiency 
    ... Organization for Rare Disorders (NORD) ... protein disaggregation. J Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015-9813- ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics