Yadav G C, Reavey P C
Department of Clinical Biochemistry, Al-Sabah Hospital, Kuwait.
J Inherit Metab Dis. 1988;11(3):277-84. doi: 10.1007/BF01800370.
We present a summary of the results of quantitative amino acid analysis in 800 subjects over a three-year period in Al-Sabah Hospital, Kuwait. Thirty-five patients with aminoacidopathy were identified, all but two of whom were the offspring of first-degree consanguineous marriages: nine cases of phenylketonuria, one benign hyperphenylalaninaemia, seven non-ketotic hyperglycinaemia, five tyrosinaemia, five homocystinuria, four citrullinaemia, two cystinuria, one hyperprolinaemia, and one maple syrup urine disease. The clinical and biochemical findings in these cases are described.
我们总结了科威特萨巴赫医院在三年时间里对800名受试者进行定量氨基酸分析的结果。共确诊了35例氨基酸代谢病患者，其中除2例之外，其余均为一级近亲结婚的后代：9例苯丙酮尿症、1例良性高苯丙氨酸血症、7例非酮症高甘氨酸血症、5例酪氨酸血症、5例同型胱氨酸尿症、4例瓜氨酸血症、2例胱氨酸尿症、1例高脯氨酸血症和1例枫糖尿症。文中描述了这些病例的临床和生化检查结果。
