88 top medical experts on B BH4-Deficient Hyperphenylalaninemia across 11 countries and 1 U.S. states, including 6 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. B BH4-Deficient Hyperphenylalaninemia: GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, 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. Support Organizations
  4. Synonyms: GTP Cyclohydrolase I Deficiency,  HPABH4B,  Due To GTP Cyclohydrolase I Deficiency Tetrahydrobiopterin-Deficient Hyperphenylalaninemia


  

        

                    


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