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6-pyruvoyl-tetrahydropterin synthase deficiency

Disease definition

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.

ORPHA:13

  • Synonym(s):
    • Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.1
  • OMIM: 261640
  • UMLS: C0878676
  • MeSH: C535325
  • GARD: 5682
  • MedDRA: -

Detailed information

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