组氨酸血症PPT.pptxVIP

组氨酸血症(Histidinemia);化学名：α-氨基-β-咪唑基丙酸 英文名称：histidine 英文缩写：His 组氨酸是生长发育快速的婴、幼儿期必需的氨基酸，其每日需要量约为35mg/kg;概念： Histidemia, first described by Ghadimi in 1961, is caused by a defect in histidase. The defect results in elevated urinary excretion of histidine and its transamination products, and in high blood histidine. Blood histidine levels in histidinemic patients range from 290 to 1420 microM (normal 70-120 microM). Histidase (histidine ammonia-lyase, EC 4.3.1.3) catalyzes the deamination of L-histidine to trans-urocanic acid in the liver and skin of mammals. Histidase deficiency results in increased histidine and histamine in blood, and decreased urocanic acid in blood and skin. The clinical picture of histidinemia varies from complete normality to severe retardation, with many patients being asymptomaticFrequency of histidinemia ranges from 1 in 8000 (Japan) to 1 in 37,000 (Sweden). Histidinemia is inherited as an autosomal recessive trait.;病因和发病机制; 另一方面引起其他低效率代谢路径的活跃，在各种替代途径中，以组氨酸的转氨、甲基化和乙酰化居多，但未发现组氨酸脱羧产物的增加。大量的组氨酸旁路代谢产物咪唑丙酮酸、咪唑乳酸和咪唑乳乙酸等从尿中排出。;临床表现;实验室检查; 尿中组氨酸的排出量为正常人的6-10倍，可高达27mmol/g肌酐。（正常2mmol/g肌酐）； 尿中除组氨酸外，排出咪唑丙酮酸、咪唑乳酸、咪唑乙酸等明显增高，咪唑丙酮酸可使尿三氯化铁反应阳性。 血液和尿液组织中的尿刊酸含量减少，常不能测出。 脑脊液中组氨酸为48-142ummol/L,为正常值的3倍以上； ;诊断和鉴别诊断; A highly specific and sensitive procedure for determining histidase activity, with labeled histidine as the substrate, that requires only 1 to 2 mg of stratum corneum epidermidis has been developed. Methods for determining ratios of urocanic acid to histidine (U/H) in stratum corneum epidermidis and for measuring excretion of histidine and its metabolites by thin-layer chromatography were developed. Application of this triad—stratum corneum epidermidis histidase determination, measurement of stratum corneum U/H, and analysis of excretion of histidine metabolites—should facilitate evaluation of the condition of infants and young children with suspected histidinemia. ;治疗： 本病的治疗多主张从早期开始,低组氨酸饮食对本病有一定的疗效。 部分患者有临床症状，而有症状与无症状患者之生化改变又无区别。鉴于无