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.

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 (r(2) = 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.