Preferred Label : Pterin-4-carbinolamine dehydratase deficiency;
ICD-11 definition : 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;
ICD-11 synonym : Primapterinuria; Hyperphenylalaninaemia due to pterin-4-alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninaemia due to dehydratase deficiency; Dehydratase deficiency;
Origin ID : 956925984;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
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
