Carnitine palmitoyltransferase II deficiency
ORPHA:157DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)42
Очень частый (80–99%)3
HP:0001324Muscle weakness
HP:0003326Myalgia
HP:0012380Reduced carnitine O-palmitoyltransferase activity
Частый (30–79%)10
HP:0002913Myoglobinuria
HP:0003077Hyperlipidemia
HP:0003198Myopathy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003546Exercise intolerance
HP:0003738Exercise-induced myalgia
HP:0008315Decreased plasma free carnitine
HP:0011936Decreased plasma total carnitine
HP:0040320Red-brown urine
HP:0045045Elevated plasma acylcarnitine levels
Периодический (5–29%)11
HP:0001250Seizure
HP:0001970Tubulointerstitial nephritis
HP:0002240Hepatomegaly
HP:0002315Headache
HP:0002574Episodic abdominal pain
HP:0003201Rhabdomyolysis
HP:0003449Cold-induced muscle cramps
HP:0003710Exercise-induced muscle cramps
HP:0003774Stage 5 chronic kidney disease
HP:0008682Renal tubular epithelial necrosis
HP:0011964Intermittent painful muscle spasms
Очень редкий (1–4%)18
HP:0000113Polycystic kidney dysplasia
HP:0000238Hydrocephalus
HP:0000800Cystic renal dysplasia
HP:0001259Coma
HP:0001274Agenesis of corpus callosum
HP:0001302Pachygyria
HP:0001320Cerebellar vermis hypoplasia
HP:0001399Hepatic failure
HP:0001638Cardiomyopathy
HP:0001985Hypoketotic hypoglycemia
HP:0002126Polymicrogyria
HP:0002134Abnormality of the basal ganglia
HP:0002269Abnormality of neuronal migration
HP:0002514Cerebral calcification
HP:0002643Neonatal respiratory distress
HP:0006559Hepatic calcification
HP:0011675Arrhythmia
HP:0012443Abnormality of brain morphology
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 300 | Worldwide | Case(s) |
| Point prevalence | 1-9 / 100 000 | 5 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)