372 top medical experts on Phenylketonurias across 46 countries and 28 U.S. states, including 196 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Phenylketonurias: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase or less frequently by reduced activity of dihydropteridine reductase (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; seizures; skin hypopigmentation; eczema; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Errors Amino Acid Metabolism (1,295), Inborn Metabolic Brain Diseases (1,358) and Narrower Categories: Maternal Phenylketonuria (148).
  4. Clinical Trials ClinicalTrials.gov : at least 132 including 5 Active, 76 Completed, 26 Recruiting
  5. Synonyms: Dihydropteridine Reductase Deficiency Disease,  Non-Phenylketonuric Hyperphenylalaninemia,  Phenylalanine Hydroxylase Deficiency Disease


  

        

                    


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