Pterin-4 alpha-carbinolamine dehydratase deficiency
ORPHA:1578· ICD-10 E70.1
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal