Abstract
Magnetic resonance imaging is the most efficient imaging modality to evaluate brain gray and white matter of patients with metabolic diseases [1, 2, 3]. The main purpose of out study was to investigate the relation between brain MRI abnormalities and the phenylalanine (phe) and tyrosine (tyr) blood levels in 38 phenylketonuria (PKU) patients. Increased periventricular white matter intensity on T2-weighted brain images was the only pahtologic finding in 24 patients. Brain MRI abnormalities were scored (4) and correlated with the individual mean phe and phe/ tyr levels during 1 year preceding MR examination and with phe tolerance. The appearance of MRI abnormalities on brain T2-weighted images correlates with a threshold mean phe level (averaged over the year preceding the examination).
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Edwards MK, Cassedy KJ (1992) Imaging of metabolic diseases of the brain. Curr Opin Radiol 4: 38–42
Shaw DWW, Weinberger E, Maravilla KR (1990) Case report: cranial MR in phenylketonuria. J Comput Assist Tomogr 14: 458–460
Thompson AJ, Smith I, Brenton D et al. (1990) Neurological deterioration in young adults with phenylketonuria. Lancet 336: 602–605
Pearsen KD, Gean-Marton AD, Levy HL et al. (1990)Phenylketonuria: MR Imaging of the brain with clinical correlation. Radiology 177:437–440
Hommes FA, Eller AG, Taylor EH (1982) Turnover of the fast components of myelin and myelin proteins in experimental hyperphenylalaninaemia. Relevance to termination of dietary treatment in human phenylketonuria. J Inherited Metab Dis 5: 21–27
Battistini S, De Stefano N, Parlanti S et al. (1991) Unexpected white matter changes in an early treated PKU case and improvement after dietary treatment. Funct Neurol 6: 177–180
Bauman ML, Kemper TL (1982) Morphologic and histoanatomatic observations of the brain in untreated human phenylketonuria. Acta Neuropathol 58: 55–63
Shaw DWW, Maravill KR, Weinberger E et al. (1991) MR Imaging of Phenylketonuria. AJNR 12:403–406
Hajek M, Hejcmanova L, Pradny J (1993) Proton in vivo spectroscopy of patients with hyperphenylalaninaemia. Neuropediatrics 24:111–112
Thompson AJ, Smith I, Kendall BE et al. (1991) Magnetic resonance imaging changes in early treated patients with phenylketonuria. Lancet 337: 1224
Shah SN, Peterson NA, McKean CM (1972) Lipid composition of human cerebral white matter and myelin in phenylketonuria. J Neurochem 19:2369–2376
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Breysem, L., Smet, M.H., Johannik, K. et al. Brain MR Imaging in dietarily treated phenylketonuria. Eur. Radiol. 4, 329–331 (1994). https://doi.org/10.1007/BF00599065
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00599065