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Results 1 - 8 of 8 for "3-Methylglutaric" aciduria
Did you mean "3-methyl glutaric" aciduria?
  1. 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 
    ... Registry: Deficiency of hydroxymethylglutaryl-CoA lyase 3-hydroxy-3-methylglutaric aciduria National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/...oxy-3-methylglutaryl-coa-lyase-deficiency - Genetics
  2. HMGCL gene 
    ... B, Hegardt FG. Molecular basis of 3-hydroxy-3-methylglutaric aciduria. J Physiol Biochem. 2003 Dec;59(4):311- ...
    https://medlineplus.gov/genetics/gene/hmgcl - Genetics
  3. Newborn Screening Tests for Your Baby (March of Dimes Foundation)  
    Newborn Screening/Specifics ... Newborn Screening ... March of Dimes Foundation
    https://www.marchofdimes.org/.../newborn-screening-tests-your-baby - External Health Links
  4. Costeff syndrome 
    ... be diagnosed by the presence of 3-methylglutaconic aciduria. People with Costeff syndrome also have high levels of another acid called 3-methylglutaric acid in their urine. Costeff syndrome affects an ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  5. Dilated cardiomyopathy with ataxia syndrome 
    ... of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with DCMA syndrome also have high urine levels of another acid called 3-methylglutaric acid. DCMA syndrome is a very rare disorder. ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  6. AUH gene 
    ... broken down into multiple acids: 3-methylglutaconic acid, 3-methylglutaric ... (aciduria). Researchers speculate that an accumulation of these acids ...
    https://medlineplus.gov/genetics/gene/auh - Genetics
  7. 3-methylglutaconyl-CoA hydratase deficiency 
    ... levels 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with 3-methylglutaconyl-CoA hydratase deficiency also have high urine levels of another acid called 3-methylglutaric acid. 3-methylglutaconyl-CoA hydratase deficiency is a ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  8. MEGDEL syndrome 
    ... 3-methylglutaconic acid, in the urine (3-methylglutaconic aciduria). ... 3-methylglutaric acid.In infancy, individuals with MEGDEL syndrome develop ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics