Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients

Trefz, Friedrich; Frauendienst-Egger, Georg; Dienel, Gerald; Cannet, Claire; Schmidt-Mader, Brigitte; Haas, Dorothea; Blau, Nenad; Himmelreich, Nastassja; Spraul, Manfred; Freisinger, Peter; Dobrowolski, Steven; Berg, Daniela; Pilotto, Andrea

doi:10.1016/j.ymgme.2024.108464

Molecular Genetics and Metabolism

2024

DOI: 10.1016/j.ymgme.2024.108464

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Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients

Friedrich Trefz,

Georg Frauendienst-Egger,

Gerald Dienel

et al.

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Cited by 2 publications

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Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria

Muri,

Reed,

Maissen‐Abgottspon

et al. 2024

J of Inher Metab Disea

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Alterations in brain structure are frequently observed in adults with early‐treated phenylketonuria (PKU) compared to healthy controls, with cerebral white matter (WM) being particularly affected. The extent to which temporary elevation of phenylalanine (Phe) levels impacts WM remains unclear. We conducted a double‐blind, randomised, placebo‐controlled crossover trial to investigate the effects of a 4‐week high Phe exposure on cerebral WM and its relationship to cognitive performance and metabolic parameters in adults with PKU. In this study, 27 adults with early‐treated classical PKU (aged 19–48 years) underwent diffusion tensor imaging (DTI) before and after the 4‐week Phe and placebo interventions. Fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) were analysed using tract‐based spatial statistics. Neuropsychological examinations at each timepoint evaluated executive functions and attention. Additionally, brain Phe levels were measured using MR spectroscopy, and blood levels of Phe, tyrosine, and tryptophan were assessed after an overnight fast. Following the Phe period, significant decreases in AD, MD, and RD were observed compared to the placebo period, particularly in the posterior corona radiata and optic radiation. Notably, these WM changes were reversible in patients who first received Phe (n = 13). Cognitive performance and metabolic parameters were not significantly related to DTI scalars after the Phe period. In conlcusion, a 4‐week Phe elevation induced reversible microstructural alterations in cerebral WM. Further investigation is necessary to determine the clinical implication of these changes.

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Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria

Muri,

Reed,

Maissen‐Abgottspon

et al. 2024

J of Inher Metab Disea

View full text Add to dashboard Cite

show abstract

The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial

Pinto,

Daly,

Newby

et al. 2024

Molecular Genetics and Metabolism

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Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients

Cited by 2 publications

References 78 publications

Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria

Reversible white matter changes following a 4‐week high phenylalanine exposure in adults with phenylketonuria

The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial

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