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          Institute: MPI für neurologische Forschung     Collection: Emeritus-Collection Prof. Hossmann     Display Documents

ID: 13136.0, MPI für neurologische Forschung / Emeritus-Collection Prof. Hossmann
Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria
Authors:Weglage, J.; Wiedermann, Dirk; Denecke, J.; Feldmann, R.; Koch, H. G.; Ullrich, K.; Möller, H. E.
Date of Publication (YYYY-MM-DD):2002-11
Title of Journal:Journal of Inherited Metabolic Disease
Journal Abbrev.:J. Inherit. Metab. Dis.
Issue / Number:6
Start Page:431
End Page:436
Review Status:Peer-review
Audience:Experts Only
Abstract / Description: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.
Comment of the Author/Creator:Date: 2002, NOV
External Publication Status:published
Document Type:Article
Communicated by:N. N.
Affiliations:MPI für neurologische Forschung/Experimentelle Neurologie - Abt. Prof. Hossmann
External Affiliations:Univ 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
Identifiers:ISI:000179516000002 [ID No:1]
ISSN:0141-8955 [ID No:2]
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