11 top medical experts on Hyperphenylalaninemia with primapterinuria across 0 countries. This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Hyperphenylalaninemia with primapterinuria: A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: CADH Deficiency,  HPABH4D,  D BH4-Deficient Hyperphenylalaninemia,  due to Pterin-4-Alpha-Carbinolamine Dehydratase Deficiency Tetrahydrobiopterin-Deficient Hyperphenylalaninemia,  PCBD Deficiency


  

        

                    


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