Introduction: Galactosemia is a metabolic disease that is transmitted by autosomal recessive inheritance in which there is an enzymatic deficit that prevents the metabolism of galactose. Three enzymes could be involved, but the lack of galactose-1-phosphate uridyltransferase (GALT) is the most frequent. Incidence is two cases per 100,000 newborn infants. As a consequence of this enzymatic deficit, on ingesting milk the newborn infant will present a progressive neurological deterioration, cataracts and digestive tract and kidney disorders. An early diagnosis is essential so that galactose can be withdrawn from the diet as soon as possible, which in the newborn infant means discontinuing mother's milk and feeding with galactose-free milk.
Case report: We report the case of a newborn female, the daughter of consanguineous parents (second cousins) from the gypsy ethnic group, who was diagnosed as suffering from galactosemia with a total GALT deficit. The patient was given normal milk for the first 10 days of her life and presented hypotonia, lethargy, jaundice, hepatomegaly, refusal to eat, low weight gain and a urinary infection caused by gram negative bacteria. Following diagnosis, galactose was withdrawn from the diet (she was given soy milk) and the physical exploration became progressively more normal.
Conclusions: This is an extremely unusual pathology, but the patient's outcome is largely dependent on an early diagnosis and treatment.