Familial hyperlysinaemia due to L‐lysineα‐ketoglutarate reductase deficiency: Results of attempted treatment

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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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