Abstract

Classic galactosemia is an autosomal recessive metabolic disorder with an estimated incidence of 1 in 24,000 in countries where consanguinity is common. Due to its nonspecific clinical presentation, early diagnosis during the neonatal period remains a challenge. Delayed diagnosis is associated with high morbidity and mortality. This study aims to present seven cases diagnosed within the first week of life, to emphasize the impact of early diagnosis on clinical outcomes, and to underscore the need to include galactosemia in the national newborn screening (NBS) program. Seven newborns diagnosed with classic galactosemia during the first postnatal week were retrospectively evaluated. Clinical, demographic, laboratory and genetic findings were reviewed. Among the seven patients (3 males, 4 females), the earliest diagnosis was made on postnatal day 1 and the latest on day 6. Consanguinity (first-degree cousin marriage) was identified in four cases. Initial symptoms were nonspecific, including feeding difficulties and lethargy. Physical examination revealed hypotonia, jaundice, hepatomegaly, signs of sepsis, and seizures. Laboratory investigations showed elevated liver enzymes, direct hyperbilirubinemia, prolonged coagulation tests, hypoglycemia, thrombocytopenia, and positive urinary-reducing substances (URS). The diagnosis was confirmed by demonstrating absent or markedly reduced galactose-1-phosphate uridyltransferase (GALT) enzyme activity and genetic testing, as well. Except for one asymptomatic patient, all showed significant clinical and biochemical improvement within one week following the initiation of a lactose-free diet. Galactosemia is more prevalent in countries with high consanguinity rates and remains a critical but underdiagnosed health issue due to the lack of routine newborn screening. Our findings support the inclusion of galactosemia in the national newborn screening program. Early identification through screening or clinical suspicion can prevent potentially fatal complications and significantly improve prognosis with simple dietary intervention.

Key words: Galactosemia, newborn screening, neonatal metabolic disorders, early diagnosis, GALT deficiency, lactose-free diet, consanguinity