Carnitine palmitoyl transferase II deficiency, myopathic form
ORPHA:228302Clinical subtypeAutosomal recessiveAdolescent, Adult, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)21
Очень частый (80–99%)6
HP:0040320Red-brown urine
HP:0002913Myoglobinuria
HP:0003326Myalgia
HP:0003546Exercise intolerance
HP:0003738Exercise-induced myalgia
HP:0012380Reduced carnitine O-palmitoyltransferase activity
Частый (30–79%)4
HP:0001324Muscle weakness
HP:0003455Elevated circulating long chain fatty acid concentration
HP:0045045Elevated plasma acylcarnitine levels
HP:0100295Muscle fiber atrophy
Периодический (5–29%)11
HP:0000083Renal insufficiency
HP:0001970Tubulointerstitial nephritis
HP:0003201Rhabdomyolysis
HP:0003236Elevated circulating creatine kinase concentration
HP:0003394Muscle spasm
HP:0003449Cold-induced muscle cramps
HP:0003710Exercise-induced muscle cramps
HP:0003774Stage 5 chronic kidney disease
HP:0008682Renal tubular epithelial necrosis
HP:0009058Increased muscle lipid content
HP:0011964Intermittent painful muscle spasms
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 300 | 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)