L-Arginine:glycine amidinotransferase deficiency
ORPHA:35704DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)17
Очень частый (80–99%)3
HP:0001263Global developmental delay
HP:0100543Cognitive impairment
HP:6000572Reduced tissue arginine:glycine amidinotransferase activity
Частый (30–79%)10
HP:0000750Delayed speech and language development
HP:0001324Muscle weakness
HP:0003198Myopathy
HP:0012101Decreased serum creatinine
HP:0025051Reduced brain creatine level by MRS
HP:0034292Reduced circulating creatine concentration
HP:0034597Decreased CSF creatinine concentration
HP:0034888Decreased urine guanidinoacetic acid level
HP:6000115Decreased urine creatinine level
HP:6000748Decreased urinary creatine level
Периодический (5–29%)4
HP:0000708Atypical behavior
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001288Gait disturbance
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)