Carnitine-acylcarnitine translocase deficiency
ORPHA:159DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)20
HP:0001254Lethargy
HP:0001263Global developmental delay
HP:0001298Encephalopathy
HP:0001324Muscle weakness
HP:0001638Cardiomyopathy
HP:0001985Hypoketotic hypoglycemia
HP:0001987Hyperammonemia
HP:0002093Respiratory insufficiency
HP:0002240Hepatomegaly
HP:0002615Hypotension
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003162Fasting hypoglycemia
HP:0003201Rhabdomyolysis
HP:0003215Dicarboxylic aciduria
HP:0003234Decreased circulating carnitine concentration
HP:0004756Ventricular tachycardia
HP:0008331Elevated creatine kinase after exercise
HP:0011675Arrhythmia
HP:0045045Elevated plasma acylcarnitine levels
HP:0000737Irritability
Периодический (5–29%)10
HP:0000252Microcephaly
HP:0000639Nystagmus
HP:0000961Cyanosis
HP:0001250Seizure
HP:0001259Coma
HP:0001399Hepatic failure
HP:0002045Hypothermia
HP:0002882Sudden episodic apnea
HP:0100520Oliguria
HP:0100602Preeclampsia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 60 | Worldwide | Case(s) |
| 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)