Tetrahydrobiopterin Deficiency Index

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Tetrahydrobiopterin deficiency is a rare genetic disorder that increases the levels of phenylalanine and several other substances in the blood, at birth. Symptoms of Tetrahydrobiopterin deficiency include movement disorders, difficulty swallowing, seizures, and more. Causes of tetrahydrobiopterin deficiency can be from mutations of several genes including GCH1, PCBD1, PTS, and QDPR. Tetrahydrobiopterin deficiency is an inherited condition in an autosomal resessive pattern.

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Terms related to Tetrahydrobiopterin Deficiency:

  • BH4 Deficiency
  • HPA
  • Hyperphenylalaninemia, Non-Phenylketonuric
  • Non-Phenylketonuric Hyperphenylalaninemia

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