Série de casos de pacientes com galactosemia atendidos em serviço de referência em doenças raras no Rio de Janeiro

Abstract

Introduction: Galactosemia comprises a heterogeneous group of inborn errors of galactose metabolism resulting from partial or complete deficiency of enzymes in the Leloir pathway. In Brazil, the estimated incidence is approximately 1:20,000 live births, with regional variations and limitations in neonatal screening. Clinical manifestations are highly variable, ranging from severe neonatal presentations—such as liver failure and sepsis—to asymptomatic cases, particularly in benign variants. Treatment is based on dietary exclusion of lactose and galactose, combined with continuous multidisciplinary follow-up. Objective: This study aimed to describe the clinical, epidemiological, laboratory, and nutritional characteristics of patients with suspected or confirmed galactosemia followed at the Pediatric Nutrology Outpatient Clinic of the Federal University of Rio de Janeiro (UFRJ), a referral center for rare diseases. Methodology: This observational, descriptive case series was based on a retrospective review of medical records from patients seen between 2018 and 2025. Results: Fifteen patients were included, with a slight male predominanceand wide variation in age at diagnosis. Only one case was identified through public neonatal screening. Significant laboratory heterogeneity was observed, and molecular analysis revealed a predominance of the Duarte variant. Forty percent of patients remained asymptomatic, while clinical manifestations occurred mainly in cases of classic galactosemia. All patients received dietary restriction, including those with benign variants. Conclusion: In conclusion, galactosemia presents a broad clinical and laboratory spectrum, complicating diagnosis and management, particularly in settings with limited neonatal screening. These findings highlight the importance of early diagnosis, integration of clinical, biochemical, and molecular data, and individualized nutritional management to avoid unnecessary dietary restrictions in benign variants, as well as the role of referral centers in patient care within the Brazilian context.