The investigation of serum phenylalanine levels based on infant feeding method: a cross-sectional study of children less than two years old with phenylketonuria (PKU).

Background: Clinical advice may suggest discontinuing breastfeeding after the diagnosis of phenylketonuria in infants as the only effective way to monitor the newborn's intake and accurate measurement of phenylalanine (Phe). This study aims to investigate the prevalence and duration of breastfeeding, as well as its effect on serum Phe levels in infants with phenylketonuria at Education and Therapy Medical Center, Be'sat Hospital, Iran.

Methods: We conducted a cross-sectional study of 34 children under two years old diagnosed with phenylketonuria between September 2018 and December 2022. Infants were categorized as breastfed and non-breastfed (bottle-fed) based on their feeding method after diagnosis. Data on age at diagnosis, medical records, demographic information, and anthropometric indices were collected, and infants with incomplete data or mixed feeding (formula + breast milk) were excluded from the study.

Results: Of 94 infants managed in our hospital, 34 had complete medical records. Among the all patients 13 (38%) continued to be breastfed combined with phenylalanine-free amino acid-based protein substitute, while 21 (62%) were did not receive breast milk. The mean duration of breastfeeding was 2.57 ± 0.59 (1-3) months. The mean age at diagnosis was 22.6 ± 18.4 days. Phenylalanine concentrations at diagnosis were mean 10, SD 5.44; range 4-24 mg/dL [0.22-1.33 μmol/L] in the breastfed group and mean 14.3, SD 10.2; range 5-37 mg/dL [0.27-2.05 μmol/L] in the non-breastfed group.Non-breastfed infants had lower serum Phe levels than breastfed infants: mean 3.76, SD 2.10; range 1-7 mg/dL [0.05-0.38 μmol/L] and mean 4.89, SD 3.68; range 2-19 mg/dL [0.11-1.05 μmol/L], respectively, although not statistically significant [(t (34) = 118.0, P = 0.51]. Also we found no significant associations in body measurements for weight, height, and head circumference at birth and final assessment.

Conclusions: In conclusion, during treatment, there were no statistically significant associations between breastfeeding and serum Phe levels with growth in children with phenylketonuria.