Anthropometric Assessment and some of Contributing Factors in Control of Phenylketonuria Patients in Khuzestan Province

Document Type : Original Article


1 -Division of Nutrition, Abuzar Children's Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

2 1-Division of Nutrition, Abuzar Children's Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

3 Department of Pediatrics, Medical School, Ahvaz Jundishapur University of Medical Sciences, Iran.

4 Nutrition and Metabolic Disease Research Center, Ahvaz Jundishapur University of Medical Sciences, Iran.

5 Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Iran.


Background and Objective: Untreated phenyl ketonuria (PKU) results in high serum phenylalanine and severe irreversible mental and motor deterioration. The aim of this study was to investigate the anthropometric incices and some of contributing factors in disease control in patients suffering from PKU <18yr old in Khuzestan province.
Subjects and Methods: This study was conducted in 2012 on 56 PKU patients aged 2 months-18yr (34 males, 22 females) in Abuzar children’s hospital, the only center for referral and management of PKU in Khuzestan province. Weight and height were measured using standard methods and were compared with the WHO standards. Nutritional indices, including weight for age (W/A), height for age (H/A), and body mass index for age (BMI/A) were determined using WHO Anthro-software. Based on advised serum phenylalanine levels, patients were divided to two controlled and uncontrolled groups.
Results: W/A and H/A indices were lower than -2SD in 17.85% and 15.09% of subjects respectively. According to height index two patients had severe malnutrition (<-3SD); both of them were girls. Nine percent of patients (4 males, 1 female) had BMI< -2SD. Regarding W/A, H/A, BMI/A there were no difference between the controlled and uncontrolled groups.
Conclusions: Anthropometric data in PKU patients showed an inappropriate condition of growth without correlation to disease control. Providing specific semi-synthetic foods (limited by cost) and sufficient supplementation can improve these indices.


1-PAHdb. Available from: URL: Accessed may 5, 2013.
2-Cerreto M, Mehdawy B, Ombrone D, Nistico R, Ruoppolo M, Usiello A, et al. Reversal of metabolic and neurological symptoms of phenylketonuric mice treated with a PAH containing helper-dependent adenoviral vector. Curr Gene Ther 2012;12(1):48-56.
3-Thiele AG, Weigel JF, Ziesch B, Rohde C, Mutze U, Ceglarek U, et al. Nutritional Changes and Micronutrient Supply in Patients with Phenylketonuria Under Therapy with Tetrahydrobiopterin (BH(4)). JIMD Rep 2013;9:31-40.
4-Giovannini M, Verduci E, Salvatici E, Paci S, Riva E. Phenylketonuria: nutritional advances and challenges. Nutr Metab 2012;9(1):7.                                          
5-Ministry of Health.[National guidelines for prevention and control of phenylketonuria and othet hyperphenylalanemias]. 2nd ed. Tehran: Ministry of health; 2010. [In Persian]
6-Ministry of Health. [Standards of diet therapy in  phenylketonuria control program]. Tehran: Ministry of health; 2010. [In Persian]
7-MacDonald A, Rylance G, Hall SK, Asplin D, Booth IW. Factors affecting the variation in plasma phenylalanine in patients with phenylketonuria on diet. Arch Dis Child 1996;74(5):412-7.
8-Macleod EL, Ney DM. Nutritional Management of Phenylketonuria. Ann Nestle Eng 2010;68(2):58-69.
9-Mutze U, Beblo S, Kortz L, Matthies C, Koletzko B, Bruegel M, et al. Metabolomics of dietary fatty acid restriction in patients with phenylketonuria. PLoS One 2012;7(8):e43021.
10-Dobbelaere D, Michaud L, Debrabander A, Vanderbecken S, Gottrand F, Turck D, et al. Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria. J Inherit Metab Dis 2003;26(1):1-11.
11-Arnold GL, Vladutiu CJ, Kirby RS, Blakely EM, Deluca JM. Protein insufficiency and linear growth restriction in phenylketonuria. J Pediatr 2002;141(2):243-6.
12-Acosta PB, Yannicelli S, Singh R, Mofidi S, Steiner R, DeVincentis E, et al. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy. J Am Diet Assoc 2003;103(9):1167-73.
13-White JE, Kronmal RA, Acosta PB. Excess weight among children with phenylketonuria. J Am Coll Nutr 1982;1(3):293-303.
14-Fisberg RM, da Silva-Fernandes ME, Schmidt BJ, Fisberg M. Nutritional evaluation of children with phenylketonuria. Sao Paulo Med J 1999;117(5):185-91.
15-Physical status: the use and interpretation of anthropometry. Report of a WHO Expert Committee. World Health Organ Tech Rep Ser 1995;854:1-452.
16-World Health Organization. Child Growth. Available from: URL: Accessed May 5, 2013.
17-World Health Organization. Child Growth Standards. Available from: URL: standards/en/. Accessed may 5, 2013.  
18-World Health Organization. Child Growth Software. Available from: URL: childgrowth/ software/en/. Accessed May 5, 2013.
19-Hannon H, Terrel B. Guidelines on the Prevention and Control of Phenylketouria. Geneva: World Health Organization; 1990.
20-Wendel U, Koppelkamm M, Hummel W, Sander J, Langenbeck U. A new approach to the newborn screening for hyperphenylalaninemias: use of L-phenylalanine dehydrogenase and microtiter plates. Clin Chim Acta 1990;192(3):165-70.
21-Schaefer F, Burgard P, Batzler U, Rupp A, Schmidt H, Gilli G, et al. Growth and skeletal maturation in children with phenylketonuria. Acta Paediatr 1994;83(5):534-41.
22-Verkerk PH, van Spronsen FJ, Smit GP, Sengers RC. Impaired prenatal and postnatal growth in Dutch patients with phenylketonuria. The National PKU Steering Committee. Arch Dis Child 1994;71(2):114-8.
23-Kindt E, Lunde HA, Gjessing LR, Halvorsen S, Lie SO. Fasting plasma amino acid concentrations in PKU children on two different levels of protein intake. Acta Paediatr Scand 1988;77(1):60-6.
24-Allen JR, Baur LA, Waters DL, Humphries IR, Allen BJ, Roberts DC, et al. Body protein in prepubertal children with phenylketonuria. Eur J Clin Nutr 1996;50(3):178-86.
25-Quirk ME, Schmotzer BJ, Singh RH. Predictive equations underestimate resting energy expenditure in female adolescents with phenylketonuria. J Am Diet Assoc 2010;110(6):922-5.
26-McBurnie MA, Kronmal RA, Schuett VE, Koch R, Azeng CG. Physical growth of children treated for phenylketonuria. Ann Hum Biol 1991;18(4):357-68.
27-Olsson GM, Montgomery SM, Alm J. Family conditions and dietary control in phenylketonuria. J Inherit Metab Dis 2007;30(5):708-15.
28-Alaei M, Asadzadeh-Totonchi G, Gachkar L, Farivar S. Family social status and dietary adherence of patients with phenylketonuria. Iran J Pediatr 2011;21(3):379-84.
29-Bekhof J, van Spronsen FJ, Crone MR, van Rijn M, Oudshoorn CG, Verkerk PH. Influence of knowledge of the disease on metabolic control in phenylketonuria. Eur J Pediatr 2003;162(6):440-2.