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本病近年来在国内络续相继有人报告于中华神经精神科杂志上,儿科杂志上和国内其他地方杂志上,报告病名尚未统一有为苯丙酮酸尿性精神幼稚症,又为苯丙酮酸精神发育不全,亦为苯丙酮酸尿症等等。总之该病由于躯体的代谢障碍而引起的精神发育缺陷的疾病。是一种与氨基酸代谢紊乱有关的疾病,其实苯丙氨酸氧化成为酪氨酸的代谢过程有了障碍,体内苯丙氨酸及其行化物含量增多,小便中亦有大量此类化合物存在。到目前为上,山西地区尚未有人报道此种疾病,为促起同道注意特将我们所诊治的典型一例报告于后。
In recent years, the disease has been reported in the country continued one after another in the Journal of Neurology and Psychiatry, Pediatrics and other local magazines, the reported disease name has not yet unified the phenylketonuria urine mental childishness, but also the spirit of phenylpyruvate Hypoplasia, but also for phenylketonuria and so on. In short, the disease due to the body’s metabolic disorders caused by mental retardation of the disease. Is a disorder associated with amino acid metabolism, in fact, the oxidation of phenylalanine tyrosine into the metabolic process has obstacles, the body phenylalanine and its compounds increased, there are a large number of such compounds in urine. So far, no one has reported such a disease in Shanxi Province, reporting on a typical case of our diagnosis and treatment for the purpose of arousing fellow comrades.