Familial hyperlysinaemia due to L-lysine alpha-ketoglutarate reductase deficiency: results of attempted treatment.
A mentally retarded male infant with persistent hyperlysinaemia due to L-lysine alpha-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 alpha-acetyllysine and N epsilon-acetyllysine were no longer detected. After control of serum lysine for 2.5 y it was felt that the patient's social behaviour, but not his mental development, had improved somewhat.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000178:diet therapy* / Q000201:enzymology / Q000235:genetics; D000596:Amino Acids / Q000378:metabolism; D002648:Child; D004044:Dietary Proteins; D005260:Female; D006801:Humans; D008239:Lysine / Q000097:blood* / Q000652:urine; D008297:Male; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency*; D012443:Saccharopine Dehydrogenases / Q000172:deficiency*
D000596:Amino Acids; D004044:Dietary Proteins; D000587:Oxidoreductases Acting on CH-NH Group Donors; D012443:Saccharopine Dehydrogenases; D008239:Lysine