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

Weglage, J.; Wiedermann, Dirk; Denecke, J.; Feldmann, R.; Koch, H. G.; Ullrich, K.; Möller, H. E.

Item

ITEM ACTIONSEXPORT

Add to Basket

Local TagsRelease HistoryDetailsSummary

Released

Journal Article

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

MPS-Authors

/persons/resource/persons147342

Wiedermann, Dirk
In-vivo-NMR, Research Groups, Max Planck Institute for Metabolism Research, Managing Director: Jens Brüning, Max Planck Society;

External Resource

No external resources are shared

Fulltext (restricted access)

There are currently no full texts shared for your IP range.

Fulltext (public)

There are no public fulltexts stored in PuRe

Supplementary Material (public)

There is no public supplementary material available

Citation

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.

Cite as: https://hdl.handle.net/11858/00-001M-0000-0026-D5D5-E

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.