Display options
Cite
Doulgeraki A, Skarpalezou A, Theodosiadou A, et al. Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia. Int J Endocrinol Metab. 2014;12(3):e16061doi: 10.5812/ijem.16061.
Doulgeraki, A., Skarpalezou, A., Theodosiadou, A., Monopolis, I., & Schulpis, K. (2014). Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia. International journal of endocrinology and metabolism, 12(3), e16061. https://doi.org/10.5812/ijem.16061
Doulgeraki, Artemis, et al. "Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia." International journal of endocrinology and metabolism vol. 12,3 (2014): e16061. doi: https://doi.org/10.5812/ijem.16061
Doulgeraki A, Skarpalezou A, Theodosiadou A, Monopolis I, Schulpis K. Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia. Int J Endocrinol Metab. 2014 Jul 01;12(3):e16061. doi: 10.5812/ijem.16061. eCollection 2014 Jul. PMID: 25237320; PMCID: PMC4166007.
Copy Download .nbib Format: NLM
Share it on

Int J Endocrinol Metab. 2014 Jul 01;12(3):e16061. doi: 10.5812/ijem.16061. eCollection 2014 Jul.

Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia.

International journal of endocrinology and metabolism

Artemis Doulgeraki, Astrinia Skarpalezou, Areti Theodosiadou, Ioannis Monopolis, Kleopatra Schulpis

Affiliations

  1. Department of Bone and Mineral Metabolism, Institute of Child Health, Athens, Greece.
  2. Department of Inborn Errors of Metabolism, Institute of Child Health, Athens, Greece.
  3. Department of Radiology, Children's Hospital, Athens, Greece.
  4. Department of Biostatistics, Institute of Child Health, Athens, Greece.

PMID: 25237320 PMCID: PMC4166007 DOI: 10.5812/ijem.16061

Abstract

BACKGROUND: There is evidence in support of low bone density in young patients with disorders of phenylalanine metabolism; however, little is known about muscle and fat mass in these patients, especially in those with mild hyperphenylalaninemia (mHPA).

OBJECTIVES: We aimed to evaluate body composition of children and adolescents with early-diagnosed disorders of phenylalanine metabolism.

PATIENTS AND METHODS: The study was conducted in the Institute of Child Health, which is the national center that performs newborn screening. Bone, muscle, and fat mass of 48 patients with phenylketonuria (PKU) and 32 patients with mild mHPA, aged five to 18 years, were compared to 57 age- and sex-matched controls. Dual energy X-ray absorptiometry was used for this purpose.

RESULTS: Compared to controls, bone mineral density (BMD) was lower in patients with PKU (mean total body BMD z score, 0.11; P = 0.03) and in those with mild mHPA (mean lumbar BMD z score, -0.34; P = 0.01). Lean body mass and fat mass were not significantly affected in the study group. Comparison between the two patients groups did not reveal any difference in body composition profiles; however, pubertal status appeared important for within-group comparisons. Fat mass was significantly increased in teenagers with PKU, which was more evident in those with poor dietary compliance irrespective of gender (fat mass z score, 0.66; P = 0.018). Finally, positive correlations were found not only between bone, muscle, and fat mass in both groups, but also between fat mass and Phenylalanine levels in patients with PKU (r, 0.46; P = 0.001).

CONCLUSIONS: Bone mineral density appears suboptimal in young patients with disorders of phenylalanine metabolism. Adolescents seemed more prone to obesity, especially when their dietary adherence was poor, whereas muscle mass was not considerably affected. To ensure healthier bones and less fat content, close follow-up as well as proper lifestyle advice is needed.

Keywords: Bone; Children; Muscle; Phenylalanine

References

  1. J Inherit Metab Dis. 2007 Oct;30(5):694-9 - PubMed
  2. Acta Paediatr. 1998 Nov;87(11):1162-6 - PubMed
  3. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S363-71 - PubMed
  4. Arch Dis Child. 2006 Jul;91(7):612-7 - PubMed
  5. Pediatr Res. 2001 Apr;49(4):532-6 - PubMed
  6. Bone. 2004 Oct;35(4):965-72 - PubMed
  7. Am J Clin Nutr. 2002 Sep;76(3):628-32 - PubMed
  8. Mol Genet Metab. 2012 Dec;107(4):659-63 - PubMed
  9. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S283-8 - PubMed
  10. Early Hum Dev. 2001 Dec;65(2):149-58 - PubMed
  11. Eur J Pediatr. 1996 Jul;155 Suppl 1:S33-8 - PubMed
  12. Public Health Nutr. 2013 Feb;16(2):240-7 - PubMed
  13. Acta Paediatr. 1997 Mar;86(3):242-4 - PubMed
  14. J Bone Miner Metab. 2011 Mar;29(2):236-44 - PubMed
  15. Mol Genet Metab. 2013 Mar;108(3):149-54 - PubMed
  16. J Inherit Metab Dis. 2003;26(1):1-11 - PubMed
  17. J Inherit Metab Dis. 2007 Apr;30(2):202-8 - PubMed
  18. Mol Genet Metab. 2011 Dec;104(4):480-4 - PubMed
  19. Bone. 2008 Dec;43(6):1115-21 - PubMed
  20. Arch Dis Child. 2002 Oct;87(4):341-7; discussion 341-7 - PubMed
  21. Nurs Health Sci. 2012 Sep;14(3):372-80 - PubMed
  22. J Pediatr Gastroenterol Nutr. 2011 Mar;52(3):345-50 - PubMed
  23. Am J Clin Nutr. 2002 Dec;76(6):1416-21 - PubMed

Publication Types