Citrullinemia type I
ORPHA:247525DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)28
Очень частый (80–99%)2
HP:0001987Hyperammonemia
HP:0011966Elevated plasma citrulline
Частый (30–79%)1
HP:0001399Hepatic failure
Периодический (5–29%)11
HP:0000707Abnormality of the nervous system
HP:0001250Seizure
HP:0001254Lethargy
HP:0001257Spasticity
HP:0001508Failure to thrive
HP:0001950Respiratory alkalosis
HP:0002013Vomiting
HP:0002342Intellectual disability, moderate
HP:0002480Hepatic encephalopathy
HP:0006889Intellectual disability, borderline
HP:0011968Feeding difficulties
Очень редкий (1–4%)14
HP:0000473Torticollis
HP:0000575Scotoma
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001259Coma
HP:0001350Slurred speech
HP:0002020Gastroesophageal reflux
HP:0002076Migraine
HP:0002315Headache
HP:0002516Increased intracranial pressure
HP:0002789Tachypnea
HP:0007185Loss of consciousness
HP:0011448Ankle clonus
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.4 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.28 | Austria | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.5 | Korea, Republic of | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.84 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.13 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)