Multiple acyl-CoA dehydrogenase deficiency
ORPHA:26791DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)58
Частый (30–79%)6
HP:0001252Hypotonia
HP:0001943Hypoglycemia
HP:0003236Elevated circulating creatine kinase concentration
HP:0003326Myalgia
HP:0003701Proximal muscle weakness
HP:0009020Exercise-induced muscle fatigue
Периодический (5–29%)36
HP:0000118Phenotypic abnormality
HP:0000260Wide anterior fontanel
HP:0000348High forehead
HP:0000377Abnormal pinna morphology
HP:0000506Telecanthus
HP:0000924Abnormality of the skeletal system
HP:0001250Seizure
HP:0001284Areflexia
HP:0001410Decreased liver function
HP:0001627Abnormal heart morphology
HP:0001635Congestive heart failure
HP:0001942Metabolic acidosis
HP:0001987Hyperammonemia
HP:0002013Vomiting
HP:0002015Dysphagia
HP:0002094Dyspnea
HP:0002240Hepatomegaly
HP:0002614Hepatic periportal necrosis
HP:0002878Respiratory failure
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003128Lactic acidosis
HP:0003150Glutaric aciduria
HP:0003202Skeletal muscle atrophy
HP:0003219Ethylmalonic aciduria
HP:0003234Decreased circulating carnitine concentration
HP:0003307Hyperlordosis
HP:00033443-Methylglutaric aciduria
HP:0003546Exercise intolerance
HP:0003551Difficulty climbing stairs
HP:0003648Lacticaciduria
HP:0005280Depressed nasal bridge
HP:0011968Feeding difficulties
HP:0012240Increased intramyocellular lipid droplets
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0030199Fatigable weakness of neck muscles
HP:0045045Elevated plasma acylcarnitine levels
Очень редкий (1–4%)16
HP:0000078Abnormality of the genital system
HP:0000113Polycystic kidney dysplasia
HP:0000256Macrocephaly
HP:0001298Encephalopathy
HP:0001638Cardiomyopathy
HP:0001735Acute pancreatitis
HP:0002091Restrictive ventilatory defect
HP:0002171Gliosis
HP:0002282Gray matter heterotopia
HP:0002421Poor head control
HP:0002540Inability to walk
HP:0003201Rhabdomyolysis
HP:0003691Scapular winging
HP:0006543Cardiorespiratory arrest
HP:0006582Reye syndrome-like episodes
HP:0011675Arrhythmia
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.47 | United States | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Israel | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)