Abstract
A mentally retarded male infant with persistent hyperlysinaemia due to L-lysineα-ketoglutarate reductase deficiency is described. The effect of dietary restriction of lysine on his mental and behavioural development was examined.
By restricting daily dietary lysine to 5.5 mg/kg body weight the fasting serum lysine became normal. Urinary lysine also became normal and the secondary metabolites homocitrulline, homoarginine,N α-acetyllysine andN ε-acetyllysine were no longer detected. After control of serum lysine for 2.5y it was felt that the patient's social behaviour, but not his mental development, had improved somewhat.
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v. d. Heiden, C., Brink, M., de Bree, P.K. et al. Familial hyperlysinaemia due to L-lysineα-ketoglutarate reductase deficiency: Results of attempted treatment. J Inherit Metab Dis 1, 89–94 (1978). https://doi.org/10.1007/BF01805679
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DOI: https://doi.org/10.1007/BF01805679