Early dietary treated patients with phenylketonuria can achieve normal growth and body composition

• Type: Article in International Scientific Journal
• Date: 2013

Authors

rocha, jc (Author) FMUP; van spronsen, fj (Author) Other; almeida, mf (Author) Other; ramos, e (Author) FMUP; guimaraes, jt (Author) FCNAUP; borges, n (Author) FCNAUP

Journal

Title: Molecular Genetics and Metabolism

Vol. 110 No. Suppl

Pages: S40-S43

ISSN: 1096-7192

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 31 Citations

ISI Web of Science

Scopus - 33 Citations

Pubmed / Medline

Scientific classification

FOS: Natural sciences > Biological sciences

CORDIS: Health sciences

Other information

Authenticus ID: P-008-J7P

DOI: 10.1016/j.ymgme.2013.10.009

Abstract (EN): 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 enrolment 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 (1592-174.8)] 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.

Language: English

Type (Professor's evaluation): Scientific

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No. of pages: 4