Classical galactosemia is a life-threatening metabolic dis- ease caused by an autosomal recessive inherited defect of galactose metabolism. Newborns with classical galac- tosemia are unable to metabolize galactose-1-phosphate. Infants with galactosemia may develop symptoms such as vomiting, liver problems, and jaundice in the first days of life if they are fed with formula that contains lactose or breast milk. In classical galactosemia generally direct hyperbilirubinemia is the prominent feature. However the disease may onset with indirect hyperbilirubinemia at its early stage. The long QT syndrome is a disorder of myocar- dial repolarization characterized by a prolonged QT inter- val on the electrocardiogram. This syndrome is associated with an increased risk of sudden infant death. We report here a case of classical galactosemia presenting with severe indirect hyperbilirubinemia and long QT syndrome during early neonatal period
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
Benzer Makaleler | Yazar | # |
---|
Makale | Yazar | # |
---|