Intervenciones de enfermería en galactosemia neonatal

Abstract

Galactosemia is a rare hereditary disease that affects newborns due to deficiencies in the enzymes responsible for galactose metabolisms, such as galactokinase, galactose-1-phosphate uridylyltransferase, or UDP-galactose 4-epimerase. It is diagnosed through neonatal metabolic screening, which aims to prevent disabilities and early death in newborns. Methodology: This research is based on a narrative literature review by gathering information from scientific databases such as Springer, Web of Science, PubMed, Redalyc, and ProQuest. Results: The worldwide incidence of galactosemia is 1 in 50,000 neonates. It is associated with a hereditary risk factor and manifests after the ingestion of breast milk. The disorder begins with common symptoms such as poor appetite, jaundice, vomiting, diarrhea, lethargy, hepatomegaly, hypotonia, hypoglycemia, cataracts, and Escherichia coli infection. The most frequent complications include septic shock, cholestasis, osteopenia, epilepsy, liver failure, adrenal insufficiency, myeloid leukemia, osteoporosis, ovarian insufficiency, motor difficulties, intellectual disability, psychomotor development delay, and behavioral disorders. Treatment involves an immediate restriction of lactose-galactose and a nutritional plan for the newborn, including a modified soy formula as part of their diet, and monitoring the total galactose level. Conclusions: Nursing interventions are necessary for the prevention, early diagnosis, education, and quality care provided to newborns to avoid complications and ensure an appropriate lifestyle. Keywords: Incidence, Galactosemia, Risk factors, Complications, Therapeutics, Metabolic screening, Nursing interventions.