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Dehydratase deficiency

ORPHA1578
Synonym(s) CADH deficiency
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia with primapterinuria
PCBD deficiency
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Neonatal
ICD-10
  • E70.1
OMIM
UMLS -
MeSH -
MedDRA -

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.


Last update: April 2014

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