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GTP cyclohydrolase I deficiency

Disease definition

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.

ORPHA:2102

Classification level: Subtype of disorder
  • Synonym(s):
    • GTPCH deficiency
    • Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.1
  • OMIM: 233910
  • UMLS: C0268467
  • MeSH: -
  • GARD: 2844
  • MedDRA: -

Detailed information

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