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疑有氨基酸代谢紊乱的100例遗传咨询病人，分别用氨基酸自动分析仪和高压液相色谱仪，进行了血16～22种氨基酸测定。结果发现75例次12种氨基酸在正常值5倍以上，其中苯丙氨酸增高者16例，酪氨酸增高者15例、在60例智力低下患者中，发现苯丙酮尿症14例，检出率为23．3％。结果表明，血氨基酸分析在诊断氨基酸代谢障碍性疾病中具有重要价值。结合临床建议以氨基酸增高5倍以上为诊断参考值。
A total of 100 cases of genetic counseling patients suspected to have disorder of amino acid metabolism were tested for amino acids 16 to 22 by amino acid analyzer and high pressure liquid chromatography respectively. The results showed 75 cases of 12 kinds of amino acids in the normal value of more than 5 times, including phenylalanine increased in 16 cases, tyrosine increased in 15 cases, 60 cases of mental retardation found in 14 cases of phenylketonuria, seizure The rate is 23.3%. The results show that the blood amino acid analysis in the diagnosis of amino acid metabolism disorders of great value. Combined with clinical recommendations to increase more than 5 times the amino acid as a diagnostic reference value.