BACKGROUND: In the past, overtreatment may have resulted in growth impairment in patients with phenylketonuria. OBJECTIVE: The paper aims to investigate height and body composition in early treated patients with phenylketonuria who were diagnosed between 1981 and 2008. DESIGN: A cross-sectional study of 89 patients with phenylketonuria and 78 controls aged (mean ± SD, in years) 14.4 ± 6.6 and 15.9 ± 7.1, respectively, was undertaken, including anthropometric and body composition evaluation using bioelectrical impedance. Median Phe concentrations in the last year before study enrollment were used as a measure of metabolic control. Natural protein and amino acid mixture intakes were recorded in patients. RESULTS: No statistically significant differences were found on height z-scores between patients and controls aged less than 19 years (p=0.301), although all patients with classical phenylketonuria revealed negative height z-scores, resulting in a mean ± SD of -0.65 ± 0.41. Among participants aged 19 years or more, median (p25-p75) of height was significantly higher in controls [168.0 cm (159.2-174.8)] than in patients [160.5 cm (151.9-167.5)] (p=0.017). No significant differences were found between patients and controls regarding fat mass, fat free mass, muscular mass, body cell mass index and phase angle. CONCLUSION: Our results suggest that early and continuously treated patients with phenylketonuria born after 1992 can achieve normal growth and body composition, although the negative height z-score in patients with classical phenylketonuria strengthens the continuous need to optimize the quality of their protein intake.
BACKGROUND: In the past, overtreatment may have resulted in growth impairment in patients with phenylketonuria. OBJECTIVE: The paper aims to investigate height and body composition in early treated patients with phenylketonuria who were diagnosed between 1981 and 2008. DESIGN: A cross-sectional study of 89 patients with phenylketonuria and 78 controls aged (mean ± SD, in years) 14.4 ± 6.6 and 15.9 ± 7.1, respectively, was undertaken, including anthropometric and body composition evaluation using bioelectrical impedance. Median Phe concentrations in the last year before study enrollment were used as a measure of metabolic control. Natural protein and amino acid mixture intakes were recorded in patients. RESULTS: No statistically significant differences were found on height z-scores between patients and controls aged less than 19 years (p=0.301), although all patients with classical phenylketonuria revealed negative height z-scores, resulting in a mean ± SD of -0.65 ± 0.41. Among participants aged 19 years or more, median (p25-p75) of height was significantly higher in controls [168.0 cm (159.2-174.8)] than in patients [160.5 cm (151.9-167.5)] (p=0.017). No significant differences were found between patients and controls regarding fat mass, fat free mass, muscular mass, body cell mass index and phase angle. CONCLUSION: Our results suggest that early and continuously treated patients with phenylketonuria born after 1992 can achieve normal growth and body composition, although the negative height z-score in patients with classical phenylketonuria strengthens the continuous need to optimize the quality of their protein intake.
Authors: A Pinto; M F Almeida; P C Ramos; S Rocha; A Guimas; R Ribeiro; E Martins; A Bandeira; A MacDonald; J C Rocha Journal: Eur J Clin Nutr Date: 2017-04-12 Impact factor: 4.016
Authors: H Blasco; C Veyrat-Durebex; M Bertrand; F Patin; F Labarthe; H Henique; P Emond; C R Andres; C Antar; C Landon; L Nadal-Desbarats; F Maillot Journal: JIMD Rep Date: 2016-06-15
Authors: M J Pena; M F de Almeida; E van Dam; K Ahring; A Bélanger-Quintana; K Dokoupil; H Gokmen-Ozel; A M Lammardo; A MacDonald; M Robert; J C Rocha Journal: Eur J Clin Nutr Date: 2016-04-27 Impact factor: 4.016
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: Priscila Nicolao Mazzola; Tatiele Nalin; Kamila Castro; Margreet van Rijn; Terry G J Derks; Ingrid D S Perry; Alberto Scofano Mainieri; Ida Vanessa D Schwartz Journal: Mol Genet Metab Rep Date: 2016-01-09