Carnitine palmitoyl transferase II deficiency, neonatal form
ORPHA:228308Clinical subtypeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)6
HP:0002913Myoglobinuria
HP:0008315Decreased plasma free carnitine
HP:0011936Decreased plasma total carnitine
HP:0012380Reduced carnitine O-palmitoyltransferase activity
HP:0040320Red-brown urine
HP:0045045Elevated plasma acylcarnitine levels
Частый (30–79%)18
HP:0000083Renal insufficiency
HP:0000113Polycystic kidney dysplasia
HP:0000800Cystic renal dysplasia
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001399Hepatic failure
HP:0001638Cardiomyopathy
HP:0001985Hypoketotic hypoglycemia
HP:0002240Hepatomegaly
HP:0002269Abnormality of neuronal migration
HP:0002514Cerebral calcification
HP:0002643Neonatal respiratory distress
HP:0003077Hyperlipidemia
HP:0003215Dicarboxylic aciduria
HP:0003236Elevated circulating creatine kinase concentration
HP:0011675Arrhythmia
HP:0011968Feeding difficulties
HP:0012443Abnormality of brain morphology
Периодический (5–29%)19
HP:0000238Hydrocephalus
HP:0001259Coma
HP:0001290Generalized hypotonia
HP:0001302Pachygyria
HP:0001320Cerebellar vermis hypoplasia
HP:0001397Hepatic steatosis
HP:0001637Abnormal myocardium morphology
HP:0001640Cardiomegaly
HP:0001942Metabolic acidosis
HP:0001970Tubulointerstitial nephritis
HP:0001987Hyperammonemia
HP:0002119Ventriculomegaly
HP:0002126Polymicrogyria
HP:0002134Abnormality of the basal ganglia
HP:0002705High, narrow palate
HP:0006559Hepatic calcification
HP:0007229Intracerebral periventricular calcifications
HP:0008682Renal tubular epithelial necrosis
HP:0012722Heart block
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)