Medium chain acyl-CoA dehydrogenase deficiency
ORPHA:42DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)37
Частый (30–79%)12
HP:0001252Hypotonia
HP:0001315Reduced tendon reflexes
HP:0001410Decreased liver function
HP:0001987Hyperammonemia
HP:0002013Vomiting
HP:0002240Hepatomegaly
HP:0003215Dicarboxylic aciduria
HP:0003473Fatigable weakness
HP:0003701Proximal muscle weakness
HP:0003738Exercise-induced myalgia
HP:0011936Decreased plasma total carnitine
HP:0030199Fatigable weakness of neck muscles
Периодический (5–29%)25
HP:0000256Macrocephaly
HP:0000750Delayed speech and language development
HP:0001251Ataxia
HP:0001254Lethargy
HP:0001259Coma
HP:0001397Hepatic steatosis
HP:0001640Cardiomegaly
HP:0001943Hypoglycemia
HP:0001946Ketosis
HP:0002014Diarrhea
HP:0002069Bilateral tonic-clonic seizure
HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
HP:0002875Exertional dyspnea
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003198Myopathy
HP:0003202Skeletal muscle atrophy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003394Muscle spasm
HP:0004326Cachexia
HP:0005684Distal arthrogryposis
HP:0007185Loss of consciousness
HP:0011675Arrhythmia
HP:0012378Fatigue
HP:0040155Elevated urinary 3-hydroxybutyric acid
HP:0045040Abnormal lactate dehydrogenase activity
Эпидемиология19
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 12 | Europe | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 16.1 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.25 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8.5 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.8 | Spain | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.49 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.3 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.26 | Australia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.96 | Japan | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.38 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.1 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.3 | Greece | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.85 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 6.85 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.02 | Austria | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.35 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Israel | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.5 | Czech Republic | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)