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Órgano Oficial del Instituto Nacional de Pediatría
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2012, Number 6

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Acta Pediatr Mex 2012; 33 (6)

Neurological images in phenylketonuria (PKU)

Cabello JF
Full text How to cite this article

Language: Spanish
References: 8
Page: 288-289
PDF size: 48.49 Kb.


Key words:

Phenylketonuria, PKU, magnetic resonance, white matter of the brain, intramyelin.

ABSTRACT

Phenylketonuria is an inborn error of metabolism that causes structural abnormalities in the white matter of the brain. In untreated patients demyelization can be observed, and there is evidence of intramyelin edema even in some treated patients. Imaging studies especially magnetic resonance imaging are useful for the study of patients with phenylketonuria, but their benefit as monitoring tools is controversial.


REFERENCES

  1. Dyer CA. Pathophysiology of phenylketonuria. Ment Retard Disabil Res Rev 1999;5:104-12.

  2. Knaap MS, van der Valk J. Magnetic Resonance of Myelin, Myelination, and Myelin Disorders. 2nd ed. London: Springer Verlag; 1995. p. 558.

  3. Leuzzi V, Tosetti M, Montanaro D, Carducci C, Artiola C, Carducci C, Antonozzi I, Burroni M, Carnevale F, Chiarotti F, Popolizio T, Giannatempo GM, D’Alesio V, Scarabino T. 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;30:209-16.

  4. Anderson PJ, Leuzzi V. White matter pathology in phenylketonuria. Mol Genet Metab 2010;99(Suppl 1):S3-9.

  5. Cleary MA, Walter JH, Wraith JE, Jenkins JP, Alani SM, Tyler K, et al. Magnetic resonance imaging of the brain in phenylketonuria. Lancet 1994;344(8915):87-90.

  6. Koch R, Moats R, Guttler F, Guldberg P, Nelson M Jr. Bloodbrain phenylalanine relationships in persons with phenylketonuria. Pediatrics 2000;106(5):1093-6.

  7. Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet 2010;376(9750):1417-27.

  8. van Spronsen FJ, Enns GM. Future treatment strategies in phenylketonuria. Mol Genet Metab 2010;99 Suppl 1:S90-5.




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C?MO CITAR (Vancouver)

Acta Pediatr Mex. 2012;33