6 top medical experts on 6-pyruvoyl-tetrahydropterin synthase deficiency across 1 countries. This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. 6-pyruvoyl-tetrahydropterin synthase deficiency: 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: HPABH4A,  Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency,  Type A BH4-Deficient Hyperphenylalaninemia,  Due To PTS Deficiency Tetrahydrobiopterin-Deficient Hyperphenylalaninemia,  PTS Deficiency


  

        

                    


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