Synergy between breast-milk and substitutes in a lactating patient with phenylketonuria: Case report

Kong Lozano L.A. · Nutricion Clinica y Dietetica Hospitalaria (2025) · DOI: 10.12873/453kong

Resumen

Introduction: Phenyketonuria (PKU) is an inborn error of metabolism that requires strict dietary control of the amino acid phenylalanine to prevent neurological damage. Clinical case: Peruvian infant with PKU diagnosed at one month of age. She was started on phenylalanine-free formula (70%) and breastfeeding (30%). Phenylalanine decreased from 9.48 to 1.72 mg/dL. Weight growth was adequate at the end of the follow-up (+0.53 DS), and height was at the lower limit of normal (-1.70 DS). Discussion: The intervention led to a progressive reduction in phenylalanine levels, reaching safe values (2-6 mg/dL). However, a below-average height was observed, suggesting the importance of balancing the restriction with an adequate intake of natural protein. Conclusions: The combined use of breast milk and specialized formulas can be a safe and effective strategy for the nutritional management of infants with PKU, provided consistent monitoring and individualized adjustments are made.

Instituciones: Universidad César Vallejo