Evaluation of Plasma Trace Element and Mineral Status in Children and Adolescents with Phenylketonuria Using Data from Inductively-Coupled-Plasma Atomic Emission and Mass Spectrometric Analysis

Language
en
Document Type
Article
Issue Date
2014-10-29
Issue Year
2013
Authors
Knerr, Ina
Blessing, Holger
Seyferth, Stefan
Watling, R. J.
Chaudhri, M. A.
Editor
Abstract

Background: Phenylketonuria (PKU) is caused by a severe phenylalanine hydroxylase deficiency; the mainstay of treatment is a low-phenylalanine diet. A diet which is so restrictive is associated with a risk of nutritional deficiencies. We investigated plasma concentrations for 46 elements, including minerals and trace elements. Methods: We enrolled 20 children and adolescents with PKU and 20 matched controls. Multi-elementary quantification was carried out by solution-based inductively coupled plasma atomic emission spectroscopy (ICP-AES) and ICP mass spectrometry (ICP-MS). Results: With the exception of manganese and aluminium, no significant differences were found for element levels between PKU patients and controls. As a trend, manganese levels were lower in PKU patients than in control subjects (p < 0.05) but were within the reference range. There was a positive linear relationship between manganese and tyrosine levels in subjects with PKU (r2 = 0.2295, p < 0.05). If detectable, potentially toxic elements were only identified in ultra-trace quantities in plasma samples of either group; aluminium levels were found to be slightly higher in PKU subjects than in controls (p < 0.01). Conclusion: The combination of ICP-AES and ICP-MS data is a useful diagnostic tool for element quantification at a high analytical rate and for monitoring bio-element status, e.g. in patients on a restrictive diet.

Journal Title
Annals of Nutrition & Metabolism
Volume
63
Issue
1/2
Citation

Annals of Nutrition & Metabolism 2013; 63: 168-173. http://www.karger.com/Article/Pdf/354869 © 2013 S. Karger AG, Basel

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