Carnitine palmitoyl transferase II deficiency, severe infantile form
ORPHA:228305Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)1
HP:0012380Reduced carnitine O-palmitoyltransferase activity
Частый (30–79%)16
HP:0001324Muscle weakness
HP:0002315Headache
HP:0002574Episodic abdominal pain
HP:0002913Myoglobinuria
HP:0003198Myopathy
HP:0003236Elevated circulating creatine kinase concentration
HP:0003326Myalgia
HP:0003449Cold-induced muscle cramps
HP:0003546Exercise intolerance
HP:0003710Exercise-induced muscle cramps
HP:0003738Exercise-induced myalgia
HP:0008315Decreased plasma free carnitine
HP:0011936Decreased plasma total carnitine
HP:0011964Intermittent painful muscle spasms
HP:0040320Red-brown urine
HP:0045045Elevated plasma acylcarnitine levels
Периодический (5–29%)12
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003201Rhabdomyolysis
HP:0006929Hypoglycemic encephalopathy
HP:0011675Arrhythmia
HP:0001250Seizure
HP:0001305Dandy-Walker malformation
HP:0001397Hepatic steatosis
HP:0001399Hepatic failure
HP:0001638Cardiomyopathy
HP:0001714Ventricular hypertrophy
HP:0001985Hypoketotic hypoglycemia
HP:0002240Hepatomegaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)