Гіперфенілаланінемія внаслідок дефіциту тетрагідробіоптерину
ORPHA:238583· ICD-10 E70.1· Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
Визначення(English summary)
A disorder of pterin metabolism characterized by tetrahydropterin (BH4) biosynthesis or recycling deficiencies, leading to central dopamine and serotonin deficiency, characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal