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Results 1 - 10 of 84 for Inborn errors of metabolism
  1. Inborn errors of metabolism 
    Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The ... and cause a wide range of symptoms. Several inborn errors of metabolism cause developmental delays or other medical problems if ...
    https://medlineplus.gov/ency/article/002438.htm - Medical Encyclopedia
  2. MEGDEL syndrome 
    ... Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  3. Costeff syndrome 
    ... Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  4. 3-methylglutaconyl-CoA hydratase deficiency 
    ... Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  5. Dilated cardiomyopathy with ataxia syndrome 
    ... Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome - Genetics
  6. Barth syndrome 
    ... Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  7. 3-methylcrotonyl-CoA carboxylase deficiency 
    ... Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative. Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System. Mol Genet Metab. 2016 May;118( ...
    https://medlineplus.gov/...methylcrotonyl-coa-carboxylase-deficiency - Genetics
  8. ClinicalTrials.gov: Carbohydrate Metabolism, Inborn Errors From the National Institutes of Health (National Institutes of Health)  
    Carbohydrate Metabolism Disorders/Clinical Trials ... Carbohydrate Metabolism Disorders ... National Institutes of Health ... From the National Institutes of Health
    https://clinicaltrials.gov/...born+Errors"&aggFilters=status:not rec - External Health Links
  9. ClinicalTrials.gov: Amino Acid Metabolism, Inborn Errors From the National Institutes of Health (National Institutes of Health)  
    Amino Acid Metabolism Disorders/Clinical Trials ... Amino Acid Metabolism Disorders ... National Institutes of Health ... From the National Institutes of Health
    https://clinicaltrials.gov/...born+Errors"&aggFilters=status:not rec - External Health Links
  10. Alkaptonuria 
    Alkaptonuria is an inherited condition that causes arthritis, kidney stones, spots of dark pigmentation, and dark urine. Ochronosis, a buildup of dark (blue-black) ...
    https://medlineplus.gov/genetics/condition/alkaptonuria - Genetics
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