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However, there was no correlation between the plasma branched-chain amino acids (BCAA) leucine, isoleucine and valine with plasma selenium levels, suggesting that the major accumulatingmetabolites inMSUDare not directly associated to selenium deficiency. These findings do not necessarily rule out a causative... 顯示更多 However, there was no correlation between the plasma
branched-chain amino acids (BCAA) leucine, isoleucine and
valine with plasma selenium levels, suggesting that the major
accumulatingmetabolites inMSUDare not directly associated to
selenium deficiency. These findings do not necessarily rule out a
causative association, so that the inclusion of a larger sample size
would be important to better evaluate this association.
We also observed in the present study a significant decrease
of erythrocyte glutathione peroxidase (GSH-Px) activity in
treated MSUD patients, but we did not find a correlation
between erythrocyte GSH-Px activity and plasma Se concentrations.
Thus, it is presumed that Se deficiency was not
responsible for the deficient activity of this enzyme, implying
that other factors may be involved in this effect. We also
verified that erythrocyte CAT and SOD activities were not
altered in treated MSUD patients, indicating that GSH-Px
deficient activity was a specific finding in these MSUD patients.
In summary, our data shows that the plasma BCAA and Allo
concentrations were decreased in treated MSUD patients, but
not to near normal levels indicating that the patients were not
strictly adherent to the therapy. Furthermore, plasma Se levels
were decreased in non-treated and particularly in patients under
treatment. These findings, allied to a poor adherence to the
protein restricted diet with low BCAA, may possibly explain
why all treated patients presented a variable degree of
psychomotor delay/mental retardation.


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