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本文报告Huntington舞蹈病3个家系的16例临床资料及其中2例血清游离氨基酸含量测定结果。平均发病年龄为34.1岁。6例死亡病例平均病程14年,平均死亡年龄50.6岁,存活的5例平均病程14年。3例住院患者染色体正常,葡萄糖耐量试验异常,其中2例血清甘氨酸及谷氨酸含量增高,天门冬氨酸等15种氨基酸含量正常。另测5个子女17种血清游离氨基酸含量正常。3例住院患者用异烟肼治疗2例有效。
This article reports 16 cases of Huntington chorea clinical data and 2 cases of serum free amino acid determination results. The average age of onset was 34.1 years. The average duration of death was 50.6 years in six cases and the average duration of death in five cases was 14 years. The chromosomes of 3 inpatients were normal and the glucose tolerance test was abnormal. Serum glycine and glutamic acid were increased in 2 cases, 15 kinds of amino acids such as aspartic acid were normal. Another measured 5 children 17 kinds of serum free amino acids normal. Three inpatients were treated with isoniazid in 2 cases.