Carnitine palmitoyl transferase 1A deficiency
ORPHA:156DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)21
Очень частый (80–99%)11
HP:0000708Atypical behavior
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001315Reduced tendon reflexes
HP:0001399Hepatic failure
HP:0001939Abnormality of metabolism/homeostasis
HP:0001943Hypoglycemia
HP:0002167Abnormality of speech or vocalization
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003202Skeletal muscle atrophy
HP:0012378Fatigue
Частый (30–79%)6
HP:0001254Lethargy
HP:0001259Coma
HP:0002240Hepatomegaly
HP:0004374Hemiplegia/hemiparesis
HP:0007185Loss of consciousness
HP:0008279Transient hyperlipidemia
Периодический (5–29%)4
HP:0001639Hypertrophic cardiomyopathy
HP:0001645Sudden cardiac death
HP:0001947Renal tubular acidosis
HP:0011675Arrhythmia
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 60 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 | Israel | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)