362-04-013 ISMRM Abstract

Chronic and Acute Phenylalanine Exposure in Adults with Phenylketonuria: An In Vivo ¹H-MRS Study

Primary: Contrast Mechanisms - Spectroscopy

Secondary: Pediatrics - Rare Disease

362-04-013 · Spectroscopy and Spectroscopic Imaging: Neuro I · Monday, 11 May, 2:45 PM–3:40 PM · Digital Posters Row C

Keywords: In vivo proton magnetic resonance spectroscopy Phenylketonuria Brain metabolism Randomized placebo-controlled trial Rare metabolic disease

Accepted

Raphaela Muri ^1,2, Maike Hoefemann^2,3, Vanessa Vallesi¹, Laura Winiger¹, Karin Zwygart^2,3, Roman Trepp¹, Regula Everts^1,2,4, Roland Kreis^2,3

¹Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism (UDEM), Inselspital, University of Bern, Switzerland

²Translational Imaging Center (TIC), Sitem-Insel, Bern, Switzerland

³Magnetic Resonance Methodology, Institute of Diagnostic and Interventional Neuroradiology, Inselspital, University of Bern, Switzerland

⁴Division of Neuropaediatrics, Development and Rehabilitation, Department of Paediatrics, Inselspital, University of Bern, Switzerland

Presenting Author: Raphaela Muri

Synopsis

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References

1. Pietz J, Kreis R, Rupp A, et al. Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest. 1999;103(8):1169-1178. doi:10.1172/JCI5017 [doi]

2. Novotny EJ, Avison MJ, Herschkowitz N, et al. In vivo measurement of phenylalanine in human brain by proton nuclear magnetic resonance spectroscopy. Pediatr Res. 1995;37(2):244-249. doi:10.1203/00006450-199502000-00020 [doi]

3. Hoefemann M, Adalid V, Kreis R. Optimizing acquisition and fitting conditions for 1H MR spectroscopy investigations in global brain pathology. NMR Biomed. 2019;32(11):1-11. doi:10.1002/nbm.4161 [doi]

4. Trepp R, Muri R, Abgottspon S, et al. Impact of phenylalanine on cognitive, cerebral, and neurometabolic parameters in adult patients with phenylketonuria (the PICO study): A randomized, placebo-controlled, crossover, noninferiority trial. Trials. 2020;21(1):178. doi:10.1186/s13063-019-4022-z [doi]

5. Kreis R, Zwygart K, Boesch C, Nuoffer JM. Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by 1H-MR spectroscopy. Magn Reson Med. 2009;62(1):11-16. doi:10.1002/mrm.21983 [doi]

6. Dezortová M, Hájek M, Tintěra J, Hejcmanová L, Syková E. MR in phenylketonuria-related brain lesions. Acta radiol. 2001;42(5):459-466. doi:10.1080/028418501127347179 [doi]

7. Leuzzi V, Tosetti M, Montanaro D, et al. The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study. J Inherit Metab Dis. 2007;30(2):209-216. doi:10.1007/s10545-006-0399-4 [doi]

8. Pietz J, Rupp A, Ebinger F, et al. Cerebral energy metabolism in phenylketonuria: Findings by quantitative in vivo 31P MR spectroscopy. Pediatr Res. 2003;53(4):654-662. doi:10.1203/01.PDR.0000055867.83310.9E [doi]

9. Dezortová M, Hejcmanová L, Hájek M. Decreasing choline signal - A marker of phenylketonuria? Magn Reson Mater Physics, Biol Med. 1996;4(3-4):181-186. doi:10.1007/BF01772005 [doi]

10. Kreis R. 1 H-Magnetic Resonance Spectroscopy of Cerebral Phenylalanine Content and its Transport at the Blood-Brain Barrier. In: Choi IY, Gruetter R, eds. Neural Metabolism In Vivo. Vol 4. Springer Science and Business Media LLC; 2012:1117-1134. doi:10.1007/978-1-4614-1788-0_40 [doi]

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http://echo.ismrm.org/p/ISMRM2026/362-04-013