Acyl-CoA dehydrogenase 9 deficiency
ORPHA:99901DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Облигатный (100%)1
HP:0011923Decreased activity of mitochondrial complex I
Частый (30–79%)22
HP:0001290Generalized hypotonia
HP:0001298Encephalopathy
HP:0001397Hepatic steatosis
HP:0001508Failure to thrive
HP:0001635Congestive heart failure
HP:0001639Hypertrophic cardiomyopathy
HP:0001644Dilated cardiomyopathy
HP:0001873Thrombocytopenia
HP:0001987Hyperammonemia
HP:0002151Increased circulating lactate concentration
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003128Lactic acidosis
HP:0003198Myopathy
HP:0003234Decreased circulating carnitine concentration
HP:0003324Generalized muscle weakness
HP:0003326Myalgia
HP:0003458EMG: myopathic abnormalities
HP:0003473Fatigable weakness
HP:0008151Prolonged prothrombin time
HP:0008331Elevated creatine kinase after exercise
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0045045Elevated plasma acylcarnitine levels
Периодический (5–29%)6
HP:0001645Sudden cardiac death
HP:0001958Nonketotic hypoglycemia
HP:0002181Cerebral edema
HP:0003215Dicarboxylic aciduria
HP:0006554Acute hepatic failure
HP:0011695Cerebellar hemorrhage
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 23 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)