Objectives: To evaluate the growth and physical development in patients with phenylalanine hydroxylase deficiency who follow exclusively dietary treatment.
Methods: Anthropometric measurements of 160 patients with hyperphenylalaninemia who were followed at our center over a 25 year period were obtained. Only patients treated exclusively with a protein-restrictive diet supplemented with amino acid mixtures were included. Height, weight and body mass index were measured at birth, at diagnosis, at 6 and 12 months of age, and annually until 18 years of age in patients with phenylketonuria or until 9 years of age in patients with mild hyperphenylalaninemia and compared to official national reference values. The final height of PKU patients was also compared to their expected family height.
Results: The analysis of z scores suggested no significant differences in physical development between PKU patients and the healthy population during the study period. The final height of PKU patients revealed that they were 2 to 4 cm taller than expected when compared to the mean family height (p<0.001). The mean weight and BMI at puberty suggested that many patients with severe PKU, but not other phenotypes, were overweight during this period.
Conclusion: Physical development can be optimal in PKU patients regardless of their phenotype and the severity of the diet. A tendency to excessive weight gain is seen in adolescence in the most severe phenotypes.
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