Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
ORPHA:238583DiseaseAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)24
Очень частый (80–99%)1
HP:0004923Hyperphenylalaninemia
Частый (30–79%)8
HP:0000708Atypical behavior
HP:0001252Hypotonia
HP:0003781Excessive salivation
HP:0003785Decreased CSF homovanillic acid concentration
HP:0012758Neurodevelopmental delay
HP:0040206Abnormal circulating neopterin concentration
HP:0040210Abnormal circulating biopterin concentration
HP:0040416Abnormal urinary nitrogen compound level
Периодический (5–29%)15
HP:0000252Microcephaly
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001300Parkinsonism
HP:0001332Dystonia
HP:0002135Basal ganglia calcification
HP:0002360Sleep abnormality
HP:0002421Poor head control
HP:0002917Hypomagnesemia
HP:0004904Maturity-onset diabetes of the young
HP:0010553Oculogyric crisis
HP:0033594Elevated urinary 7-biopterin level
HP:0100543Cognitive impairment
HP:6000482Decreased circulating catecholamine concentration
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.22 | Japan | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.21 | Brazil | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)