title: Physical development in patients with phenylketonuria on dietary treatment: a retrospective study.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: Unidad de Enfermedades Metabólicas, Servicio de Pediatría, Hospital Ramón y Cajal, Madrid, Spain. abelanger.hrc@salud.madrid.org
authors: Amaya
authors: A
authors: Belanger-Quintana
authors: Mercedes
authors: M
authors: Martínez-Pardo
mesh_terms: D000293:Adolescent; D041923:Adolescent Development; D001827:Body Height; D015992:Body Mass Index; D001835:Body Weight; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009765:Obesity / Q000209:etiology; D010661:Phenylketonurias / Q000150:complications / Q000178:diet therapy* / Q000503:physiopathology; D012189:Retrospective Studies