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Dehydratase deficiency

Orpha number ORPHA1578
Synonym(s) Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • E70.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Dehydratase deficiency is one of the etiologies of hyperphenylalaninemia due to tetrahydrobioptein deficiency. However pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency is a mild pathological abnormality, except for the risk of induced hyperphenylalaninemia. In some cases, the following signs have been noted: hypotonia, EEG showing irritative signs, and slow acquisition of psychomotor skills. It is diagnosed when the 7-biopterin isomer (primapterin) is - usually fortuitously - found in the biological fluids of an infant with hyperphenylalaninemia. Management is mainly based on dietary and restricted phenylalanine intake

Expert reviewer(s)

  • Pr Jean-Louis DHONDT
Last update: February 2005

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Detailed information
Review article
  • EN (2005,pdf)
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