Journal of Inherited Metabolic Disease

, Volume 12, Issue 1, pp 41–46

The role of the blood-brain barrier in the aetiology of permanent brain dysfunction in hyperphenylalaninaemia

  • F. A. Hommes

DOI: 10.1007/BF01805529

Cite this article as:
Hommes, F.A. J Inherit Metab Dis (1989) 12: 41. doi:10.1007/BF01805529


Calculations on the rate of entry of the neutral amino acids into the brain via the blood-brain barrier show that a considerable decrease in this rate, particularly for tryptophan and tyrosine, takes place in histidinaemia and tyrosinaemia, type II. These conditions are, however, not associated with mental retardation. It is therefore concluded that effects at the blood-brain barrier alone do not provide an adequate explanation for the aetiology of permanent brain dysfunction in hyperphenylalaninaemia.

Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • F. A. Hommes
    • 1
  1. 1.Department of Cell and Molecular BiologyMedical College of GeorgiaAugustaUSA