Very long chain acyl-CoA dehydrogenase deficiency
ORPHA:26793DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)40
Частый (30–79%)1
HP:0030781Increased circulating free fatty acid level
Периодический (5–29%)15
HP:0000952Jaundice
HP:0001518Small for gestational age
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001655Patent foramen ovale
HP:0001985Hypoketotic hypoglycemia
HP:0002045Hypothermia
HP:0002098Respiratory distress
HP:0002240Hepatomegaly
HP:0002876Episodic tachypnea
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003236Elevated circulating creatine kinase concentration
HP:0009045Exercise-induced rhabdomyolysis
HP:0011968Feeding difficulties
HP:0025502Overweight
Очень редкий (1–4%)24
HP:0000256Macrocephaly
HP:0001254Lethargy
HP:0001513Obesity
HP:0001545Anteriorly placed anus
HP:0001644Dilated cardiomyopathy
HP:0001649Tachycardia
HP:0001657Prolonged QT interval
HP:0001663Ventricular fibrillation
HP:0001678Atrioventricular block
HP:0001698Pericardial effusion
HP:0001942Metabolic acidosis
HP:0001987Hyperammonemia
HP:0002013Vomiting
HP:0002090Pneumonia
HP:0002280Enlarged cisterna magna
HP:0002789Tachypnea
HP:0002901Hypocalcemia
HP:0003075Hypoproteinemia
HP:0003394Muscle spasm
HP:0004756Ventricular tachycardia
HP:0008947Floppy infant
HP:0011123Inflammatory abnormality of the skin
HP:0011675Arrhythmia
HP:0012531Pain
Эпидемиология7
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 3.2 | Australia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.8 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 2 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.3 | Israel | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.3 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.45 | Czech Republic | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)