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Pterin-4 alpha-carbinolamine dehydratase deficiency

Disease definition

A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.

ORPHA:1578

Classification level: Subtype of disorder
  • Synonym(s):
    • Hyperphenylalaninemia due to dehydratase deficiency
    • Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
    • Hyperphenylalaninemia with primapterinuria
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E70.1
  • ICD-11: 5C59.01
  • OMIM: 264070
  • UMLS: C1849700
  • MeSH: C538382
  • GARD: 2843
  • MedDRA: -

  A summary on this disease is available in Español (2014) Nederlands (2014) Deutsch (2003) Italiano (2003) Português (2003) Français (2005) Polski ()

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.