Summary
The study included 16 adolescents with optimally controlled hyperphenylalaninaemia (McKusick 26160), of whom six did not require treatment according to conventional criteria. All except the two patients with lowest median serum phenylalanine level throughout childhood (most values at 200–300 µmol/L) had white matter abnormalities detectable with magnetic resonance imaging. The lesions were particularly prominent in the watershed regions between the posterior and middle cerebral arteries. In most patients with moderate or severe hyperphenylalaninaemia frontal white matter lesions were present as well. Normal proton magnetic resonance spectra indicated that the lesions were stable. Occipital EEG abnormalities were frequent, and deficient performance on a pattern-recognition test was a characteristic neuropsychological finding. Serum phenylalanine levels at about 300 µmol/L or below throughout childhood and early adolescence may be required to avoid lesions. The present study demonstrates the limitations of even an optimally controlled dietary regimen in hyperphenylalaninaemia.
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Bick U, Fahrendorf G, Ludolph AC, Vasallo P, Weglage J, Ullrich K (1991) Disturbed myelination in patients with treated hyperphenylalaninaemia: evaluation with magnetic resonance imaging.Eur J Pediatr 150: 185–189
Frahm J, Bruhn H, Gyngell ML, Merboldt KG, Hänicke W, Sauter R (1989) Localized high-resolution proton NMR spectroscopy using stimulated echoes: initial applications to human brainin vivo.Magn Reson Med 9: 79–93
Gerdes AM, Nielsen JB, Lou HC, Güttler F (1991) Plasma aminoacids in term neonates and infants with phenylketonuria before and after institution of the diet.Acta Paediatr Scand 79: 64–70
Grodd W, Krägeloh-Mann I, Klose U, Sauter R (1991) Metabolic and destructive brain disorders in children: findings with localized proton spectroscopy.Radiology 181: 173–181
Güttler F (1980) Hyperphenylalaninaemia. Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.Acta Paediatr Scand Suppl. 280: 27–33
Güttler F, Lou H (1990) Phenylketonuria and hyperphenylalaninaemia. In Fernandes J, Saudubray J-M, Tada K, eds.Inborn Metabolic Diseases. Berlin: Springer Verlag, 161–173
Jung WJ, Grodd W, Lutz O, Petersen D (1990) Localized1Hin vivo NMR spectroscopy of small-volume elements in human brain at 1.5 T.Magn Reson Med 15: 320–326
Lezak MD (1983)Neuropsychological Assessment. New York: Oxford University Press
Lou HC (1989) Perinatal cerebral circulation and its pathological perturbations.Dev Neurobiol 12: 221–225
Malamud N (1966) Neuropathology of phenylketonuria.J Neuropathol Exp Neurol 25: 254–268
Okano Y, Eisensmith RC, Güttler F et al (1991) Molecular basis of phenotypic heterogeneity in phenylketonuria.N Engl J Med 324: 1232–1238
Pietz J, Benninger CH, Schmidt H, Scheffner D, Bichel H (1988) Long-term development of intelligence (IQ) and EEG in 34 children with phenylketonuria treated early.Eur J Pediatr 147: 361–367
Prensky AL, Carr S, Moser HW (1968) Development of myelin in inherited disorders of aminoacid metabolism. A biomedical investigation.Arch Neurol 19: 552–558
Thompson AJ, Smith I, Brenton D et al (1990) Neurological deterioration in young adults with phenylketonuria.Lancet 336: 602–605
Thompson AJ, Smith I, Kendall Be, Youl BD, Benton D (1991) Magnetic resonance imaging changes in early treated patients with phenylketonuria.Lancet 337: 1224
Woo SLC (1991) Molecular genetics and somatic gene therapy of phenylketonuria.Society for Inherited Metabolic Disorders. Abstracts of the Vth International Congress of Inborn Errors of Metabolism. Symposium 1.5, p. 5
Zimmermann Rd, Flemming CA, Lee BCP, Saint Louis LA, Dech MDF (1986) Periventricular hyperdensity as seen by magnetic resonance: prevalence and significance.AJNR 7: 13–20
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Lou, H.C., Toft, P.B., Andresen, J. et al. An occipito-temporal syndrome in adolescents with optimally controlled hyperphenylalaninaemia. J Inherit Metab Dis 15, 687–695 (1992). https://doi.org/10.1007/BF01800008
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DOI: https://doi.org/10.1007/BF01800008