Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

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 or pterin-4 alpha-carbinolamine dehydratase (PCD) is considered a transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (see this term), 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. PCD is inherited in an autosomal recessive manner.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Review article
  • EN (2005,pdf)
Get Acrobat Reader
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.