Assessment of anthropometric indices in patients with phenylketonuria
Iranian Journal of Child Neurology,
Vol. 14 No. 2 (2020),
1 April 2020
,
Page 27-39
https://doi.org/10.22037/ijcn.v14i2.15810
Abstract
Background: Dietary phenylalanine restriction is the main treatment of phenylketonuria (PKU, OMIM 261600). There are studies which have demonstrated growth retardation in these patients, and some are in contrast. This study is done to assess the growth parameters of treated PKU patients.
Method : 105 treated PKU patients were compared to 105 controls matched in age, sex and birth weight. Weight, height, head circumference, weight for height and BMI (weight/height2) were measured and transformed into Z-scores. Correlations between pretreatment plasma Phenylalanine concentrations mean plasma Phenylalanine concentrations, and anthropometric parameters were analyzed in patients.
Findings: There was no significant difference between weight Z-scores, weight/height and BMI means, in patients and controls (P: 0.842, p: 0.257, p: 0.622 respectively). There was a significant decrease in height Z-scores of patients more than 2 years old (P: 0.005). Also, there was a significant decrease in patient's Head circumference than controls'(P: 0.03), however this significance got more in patients above 3 years old (P: 0.001). There was not a significant correlation between weight and height Z-scores, and patients' pretreatment plasma phenylalanine (P: 0.054 and 0.15), however this correlation was positively significant in HC Z-scores (r= -0.445, P: 0.01).Moreover,no correlation was found between growth parameters and mean plasma phenylalanine concentrations.
Conclusions: Growth parameters are not impaired in early treated PKU patients; however height in patients more than 2 years old and Head circumference in patients more than 3 years old were retarded. Disease severity is a more effective factor in HC growth than dietary adherence.
- Phenylketonuria
- Child
How to Cite
References
Blau, N., et al., Management of phenylketonuria in Europe: survey results from 19 countries. Molecular genetics and metabolism, 2010. 99(2): p. 109-115.
Enns, G., et al., Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence. Molecular genetics and metabolism, 2010. 101(2): p. 99-109.
Clark, B.J., After a positive Guthrie--what next? Dietary management for the child with phenylketonuria. Eur J Clin Nutr, 1992. 46 Suppl 1: p. S33-9.
Aldámiz-Echevarría, L., Phenylketonuria Treatments Impact on Physical Growth: A Spanish Retrospective Longitudinal Study. Journal of Rare Disorders: Diagnosis & Therapy, 2015.
Giovannini, M., et al., Phenylketonuria: nutritional advances and challenges. Nutrition & metabolism, 2012. 9(1): p. 1.
Dobbelaere, D., et al., Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria. Journal of inherited metabolic disease, 2003. 26(1): p. 1-11.
Huemer, M., et al., Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature. Journal of inherited metabolic disease, 2007. 30(5): p. 694-699.
Albersen, M., et al., Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage. Journal of inherited metabolic disease, 2010. 33(3): p. 283-288.
Rocha, J.C., et al., Early dietary treated patients with phenylketonuria can achieve normal growth and body composition. Molecular genetics and metabolism, 2013. 110: p. S40-S43.
Hoeksma, M., et al., The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria. Journal of inherited metabolic disease, 2005. 28(6): p. 845-854.
Gunn, V.L. and C. Nechyba, THE HARRIET LANE HANDBOOK, in A Manual for Pediatric House Officers. 2002, Mosby.
Kliegman, R., R.E. Behrman, and W.E. Nelson, Nelson textbook of pediatrics. 2016, Elsevier.
Blau, N., et al., Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases, H. Gabriele Schröder, Germany, Editor. 2006, Springer-Verlag Berlin Heidelberg New York.
Blau, N., F.J. van Spronsen, and H.L. Levy, Phenylketonuria. The Lancet, 2010. 376(9750): p. 1417-1427.
Rezvani, I., Defects in Metabolism of Amino Acids, in Nelson Textbook of Pediatrics, R.M. Kliegman, et al., Editors. 2007, Elsevier
Huemer, M., et al., Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature. J Inherit Metab Dis, 2007. 30(5): p. 694-9.
Holm, V.A., et al., Physical growth in phenylketonuria: II. Growth of treated children in the PKU collaborative study from birth to 4 years of age. Pediatrics, 1979. 63(5): p. 700-7.
Acosta, P.B., et al., Nutrient intake and growth of infants with phenylketonuria undergoing therapy. J Pediatr Gastroenterol Nutr, 1998. 27(3): p. 287-91.
McBurnie, M.A., et al., Physical growth of children treated for phenylketonuria. Ann Hum Biol, 1991. 18(4): p. 357-68.
Dobbelaere, D., et al., Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria. J Inherit Metab Dis, 2003. 26(1): p. 1-11.
Aldámiz-Echevarría, L., et al., Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: impact on growth in PKU. Molecular genetics and metabolism, 2013. 109(4): p. 331-338.
ZAKI, S.M. and L.K. EFFAT, Evaluation of the Physical Growth in Egyptian Children with Phenylketonuria Under Diet Therapy. The Medical Journal of Cairo University, 2013. 81(2).
Zaky, S.M., L.K. Effat, and S.S. Hassan, Evaluation of Physical Growth and Weight Patterns of Egyptian Children with Phenylketonuria under a Phenylalanine-Restricted Diet. Anatomy & Physiology: Current Research, 2015. 2016.
Rocha, J.C., et al., Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome. Molecular genetics and metabolism, 2012. 107(4): p. 659-663.
Schaefer, F., et al., Growth and skeletal maturation in children with phenylketonuria. Acta Paediatr, 1994. 83(5): p. 534-41.
Verkerk, P.H., et al., Impaired prenatal and postnatal growth in Dutch patients with phenylketonuria. The National PKU Steering Committee. Arch Dis Child, 1994. 71(2): p. 114-8.
Hoeksma, M., et al., The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria. J Inherit Metab Dis, 2005. 28(6): p. 845-54.
- Abstract Viewed: 136 times