Short chain acyl-CoA dehydrogenase deficiency
ORPHA:26792DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)24
Частый (30–79%)8
HP:0001508Failure to thrive
HP:0001942Metabolic acidosis
HP:0003219Ethylmalonic aciduria
HP:0008947Floppy infant
HP:0011968Feeding difficulties
HP:0012758Neurodevelopmental delay
HP:0045045Elevated plasma acylcarnitine levels
HP:0410153Increased level of methylsuccinic acid in urine
Периодический (5–29%)12
HP:0000708Atypical behavior
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001254Lethargy
HP:0001332Dystonia
HP:0001397Hepatic steatosis
HP:0001638Cardiomyopathy
HP:0001999Abnormal facial shape
HP:0002098Respiratory distress
HP:0003198Myopathy
HP:0006929Hypoglycemic encephalopathy
HP:0012734Ketotic hypoglycemia
Очень редкий (1–4%)4
HP:0000252Microcephaly
HP:0000648Optic atrophy
HP:0001276Hypertonia
HP:0001511Intrauterine growth retardation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2 | Netherlands | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)