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Results 1 - 5 of 5 for "3-methylglutaconic" aciduria type 4
  1. AUH gene 
    ... Zschocke J. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003 Apr;21(4):401-7. doi: 10.1002/humu.10202. Citation on PubMed Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. The 3-methylglutaconic acidurias: what's new? J Inherit Metab Dis. ...
    https://medlineplus.gov/genetics/gene/auh - Genetics
  2. 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
  3. 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
  4. 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
  5. 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