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  Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria

Weglage, J., Wiedermann, D., Denecke, J., Feldmann, R., Koch, H. G., Ullrich, K., et al. (2002). Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria. Journal of Inherited Metabolic Disease, 25(6), 431-436.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0026-D5D5-E Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0026-D5D6-C
Genre: Journal Article

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Weglage, J.1, Author
Wiedermann, Dirk2, Author              
Denecke, J.1, Author
Feldmann, R.1, Author
Koch, H. G.1, Author
Ullrich, K.1, Author
Möller, H. E.1, Author
Affiliations:
1Univ Munster, Dept Pediat, Albert Schweitzer Str 33, D-48129; Munster, Germany; Univ Munster, Dept Pediat, D-48129 Munster, Germany; Max Planck Inst Neurol Res, Cologne, Germany; Univ Hamburg, Dept Pediat, Hamburg, Germany; Univ Munster, Inst Phys Chem, D-48129 Munster, Germany, ou_persistent22              
2In-vivo-NMR, Research Groups, Max Planck Institute for Metabolism Research, Managing Director: Jens Brüning, Max Planck Society, ou_2149666              

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 Abstract: Recent studies indicate that individual blood-brain transport characteristics of phenylalanine may lead to different clinical outcomes in phenylketonuria (PKU) patients in spite of comparable dietary control. To check these preliminary data, we investigated four pairs of siblings with classical PKU ( and identical genotype) using in vivo nuclear magnetic resonance spectroscopy in the course of an oral phenylalanine load ( 100 mg/kg body weight). Patients' brain phenylalanine concentrations were different in spite of similar blood levels. Interindividual variations of the apparent transport Michaelis constant, K-t,K-app, ranged from 0.10 to 0.84 mmol/L. The ratio of the maximal transport velocity, T-max, over the intracerebral consumption rate, V-met, varied between 2.61 and 14.0. Siblings with lower values for K-t,K-app, higher values for T-max/V-met, and higher concurrent brain phenylalanine levels showed a lower IQ and a higher degree of cerebral white matter abnormalities. The results indicate that blood-brain barrier transport characteristics and the resultant brain phenylalanine levels are causative factors for the individual clinical outcome in PKU.

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Language(s): eng - English
 Dates: 2002-11
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: eDoc: 13136
ISI: 000179516000002
 Degree: -

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Title: Journal of Inherited Metabolic Disease
  Alternative Title : J. Inherit. Metab. Dis.
Source Genre: Journal
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Pages: - Volume / Issue: 25 (6) Sequence Number: - Start / End Page: 431 - 436 Identifier: ISSN: 0141-8955