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.
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 PKUpatients was also compared to their expected family height. RESULTS: The analysis of z scores suggested no significant differences in physical development between PKUpatients and the healthy population during the study period. The final height of PKUpatients 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 PKUpatients 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.
Authors: María L Couce; Ipek Guler; Andrés Anca-Couce; Marta Lojo; Alicia Mirás; Rosaura Leis; Alejandro Pérez-Muñuzuri; José M Fraga; Francisco Gude Journal: Eur J Pediatr Date: 2014-11-01 Impact factor: 3.183
Authors: A M J van Wegberg; A MacDonald; K Ahring; A Bélanger-Quintana; N Blau; A M Bosch; A Burlina; J Campistol; F Feillet; M Giżewska; S C Huijbregts; S Kearney; V Leuzzi; F Maillot; A C Muntau; M van Rijn; F Trefz; J H Walter; F J van Spronsen Journal: Orphanet J Rare Dis Date: 2017-10-12 Impact factor: 4.123
Authors: Bedour Handoom; Eman Megdad; Dana Al-Qasabi; Munirah Al Mesned; Reem Hawary; Samir Al-Nufiee; Zuhair Al-Hassnan; Moeenaldeen Dia Alsayed; Abdelmoneim Eldali Journal: Int J Pediatr Adolesc Med Date: 2018-06-14