Hyperammonemia due to N-acetylglutamate synthase deficiency
ORPHA:927DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)42
Очень частый (80–99%)1
HP:0001987Hyperammonemia
Частый (30–79%)3
HP:0002013Vomiting
HP:0002018Nausea
HP:0008947Floppy infant
Периодический (5–29%)21
HP:0000712Emotional lability
HP:0000713Agitation
HP:0000739Anxiety
HP:0001250Seizure
HP:0001254Lethargy
HP:0001259Coma
HP:0001263Global developmental delay
HP:0001289Confusion
HP:0001508Failure to thrive
HP:0002315Headache
HP:0002329Drowsiness
HP:0002465Poor speech
HP:0003217Hyperglutaminemia
HP:0003348Hyperalaninemia
HP:0004396Poor appetite
HP:0007185Loss of consciousness
HP:0008281Acute hyperammonemia
HP:0011968Feeding difficulties
HP:0012378Fatigue
HP:0100543Cognitive impairment
HP:0100785Insomnia
Очень редкий (1–4%)17
HP:0000252Microcephaly
HP:0000708Atypical behavior
HP:0000725Psychotic episodes
HP:0000733Abnormal repetitive mannerisms
HP:0001251Ataxia
HP:0001271Polyneuropathy
HP:0001297Stroke
HP:0001298Encephalopathy
HP:0002014Diarrhea
HP:0002098Respiratory distress
HP:0002240Hepatomegaly
HP:0002637Cerebral ischemia
HP:0002863Myelodysplasia
HP:0006582Reye syndrome-like episodes
HP:0010529Echolalia
HP:0010550Paraplegia
HP:0031258Delirium
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
| Cases/families | — | 99 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)