Galactosemia: Diagnóstico precoz mediante estudio enzimático

this paper presents the results of a study performed on a 45-day old male patient who was admitted to the hospital for weight loss, tiredness, psychomotor retardation and hypoglicemic crisis. the symptoms had begun in the neonatal period and had coincided with the introduction of breast feeding. the studies detected lactose and galactose in urine. the enzymatic study confirmed the diagnosis. the clinical recovery was satisfactory. the dietary treatment that excluded foods containing galactose and lactose was important and successful. he is the first case diagnosed on enzymatic study in cuba.