Synergy between breast-milk and substitutes in a lactating patient with phenylketonuria: Case report
DOI:
https://doi.org/10.12873/453kongKeywords:
Infant, phenylketonuria, breastfeedingAbstract
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 SD), and height was at the lower limit of normal (-1.70 SD).
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.
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