Abstract
Galactosemia is a hereditary disease characterized by impaired galactose metabolism. A newborn fed by breast milk or an adapted infant formula quickly develop clinical manifestations of the disease associated with accumulation of galactose and its toxic metabolites in the body. Neonatal screening is currently used for early diagnosis of galactosemia and prevention of life-threatening complications. However, this disease may have a crisis course with rapid progression of the symptoms, thus requiring a multidisciplinary approach in the diagnosis and therapy, as well as doctors’ alertness while expecting for screening results in preterm babies. This article presents up-to-date literature data and clinical observation of the preterm newborn with a severe course of the classical galactosemia.
Highlights
Galactosemia is a hereditary disease characterized by impaired galactose metabolism
A newborn fed by breast milk or an adapted infant formula quickly develop clinical manifestations of the disease associated with accumulation of galactose and its toxic metabolites in the body
Neonatal screening is currently used for early diagnosis of galactosemia and prevention of life-threatening complications
Summary
Galactosemia is a hereditary disease characterized by impaired galactose metabolism. A newborn fed by breast milk or an adapted infant formula quickly develop clinical manifestations of the disease associated with accumulation of galactose and its toxic metabolites in the body. Как и при галактоземии I типа, повышен уровень галактозы в крови, однако спектр клинических проявлений принципиально отличается. Выделяют также вариант Дуарте, при котором наблюдается невыраженное снижение активности фермента в эритроцитах до 25–50% от нормы, что, как правило, не имеет клинического значения и не требует лечения.
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