Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
ORPHA:71212DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)36
Облигатный (100%)1
HP:0100950Decreased 3-hydroxyacyl-CoA dehydrogenase level
Очень частый (80–99%)19
HP:0000825Hyperinsulinemic hypoglycemia
HP:0001254Lethargy
HP:0001289Confusion
HP:0001319Neonatal hypotonia
HP:0001397Hepatic steatosis
HP:0001511Intrauterine growth retardation
HP:0001985Hypoketotic hypoglycemia
HP:0001998Neonatal hypoglycemia
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002173Hypoglycemic seizures
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003215Dicarboxylic aciduria
HP:0003508Proportionate short stature
HP:0006929Hypoglycemic encephalopathy
HP:0008283Fasting hyperinsulinemia
HP:0012071Abnormality of acetylcarnitine metabolism
HP:0030781Increased circulating free fatty acid level
HP:0030796Increased C-peptide level
Периодический (5–29%)10
HP:0000580Pigmentary retinopathy
HP:0001270Motor delay
HP:0001508Failure to thrive
HP:0001987Hyperammonemia
HP:0003128Lactic acidosis
HP:0003234Decreased circulating carnitine concentration
HP:0008151Prolonged prothrombin time
HP:0008180Mildly elevated creatine kinase
HP:0008872Feeding difficulties in infancy
HP:0009830Peripheral neuropathy
Очень редкий (1–4%)6
HP:0001639Hypertrophic cardiomyopathy
HP:0001644Dilated cardiomyopathy
HP:0001657Prolonged QT interval
HP:0002605Hepatic necrosis
HP:0002913Myoglobinuria
HP:0006554Acute hepatic failure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)