vd Heiden C, Brink M, de Bree P K, v Sprang F J, Wadman S K, de Pater J M, van Biervliet J P
J Inherit Metab Dis. 1978;1(3):89-94. doi: 10.1007/BF01805679.
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.
本文描述了一名患有因L-赖氨酸α-酮戊二酸还原酶缺乏导致的持续性高赖氨酸血症的智力发育迟缓男婴。研究了限制赖氨酸饮食对其智力和行为发育的影响。通过将每日饮食中的赖氨酸限制在5.5毫克/千克体重，空腹血清赖氨酸恢复正常。尿赖氨酸也恢复正常，且不再检测到次级代谢产物同型瓜氨酸、高精氨酸、Nα-乙酰赖氨酸和Nε-乙酰赖氨酸。在血清赖氨酸得到控制2.5年后，发现患者的社交行为有所改善，但智力发育没有改善。
