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Results 1 - 10 of 11 for "3-Methylglutaconic" acid
  1. 3-methylglutaconyl-CoA hydratase deficiency 
    ... deficiency accumulate large amounts of a substance called 3-methylglutaconic acid in their body fluids. As a result, they ... be diagnosed by the presence of increased levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3- ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  2. MEGDEL syndrome 
    ... by abnormally high levels of an acid, called 3-methylglutaconic acid, in the urine (3-methylglutaconic aciduria). MEGDEL syndrome ... SERAC1 gene mutations lead to abnormal release of 3-methylglutaconic acid in the urine, although it is thought to ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  3. Dilated cardiomyopathy with ataxia syndrome 
    ... associated with increased levels of a substance called 3-methylglutaconic acid in the urine. The amount of acid does ... diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with DCMA ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  4. SERAC1 gene 
    ... and abnormally high amounts of an acid called 3-methylglutaconic acid in the urine. The SERAC1 gene mutations that ... SERAC1 gene mutations lead to abnormal release of 3-methylglutaconic acid in the urine. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics
  5. Barth syndrome 
    ... syndrome have increased levels of a substance called 3-methylglutaconic acid in their blood and urine. The amount of ... diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria).Even though most ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  6. AUH gene 
    ... alternative pathway and broken down into multiple acids: 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid. These ...
    https://medlineplus.gov/genetics/gene/auh - Genetics
  7. Costeff syndrome 
    ... associated with increased levels of a substance called 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). The amount of this substance does not ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  8. CLPB deficiency 
    ... associated with increased levels of a substance called 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). This abnormality, which provides a clue to ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  9. CLPB gene 
    ... have an increased amount of a molecule called 3-methylglutaconic acid in their urine, which does not appear to ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics
  10. OPA3 gene 
    ... Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic ... B, Gahl WA, Anikster Y. OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics
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