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苯丙酮尿症是常见的先天性代谢性疾病,据国外报导,本病患者约占精神病院住院者的0.5～1.0％。估计群体的发病率为1∶16,000.本病注意予防及早期饮食治疗,能使患儿智力发育水平在正常范围,而未经治疗者将绝大多数变为白痴。为此,临床上正确认识这类患者,甚为重要。国内曾见凌永和等(1959)及谢永昌等(1963)共报导六例。为引起同道重视,现将我院于半年内发现来自二个家族三例苯丙酮尿症报告如下,并简要讨论。
Phenylketonuria is a common congenital metabolic diseases, according to foreign reports, the disease accounted for about 0.5 to 1.0% of inpatient mental hospital. The estimated incidence of the group of 1:16, 000. The disease should pay attention to prevent and early diet, can make children with mental development in the normal range, while the vast majority of untreated will become an idiot. To this end, clinically correct understanding of such patients is very important. There have been six cases reported in China including Ling Yonghe et al. (1959) and Xie Yongchang et al. (1963). To arouse the same importance, now our hospital found in six months from three families phenylketonuria two families reported the following, and briefly discussed.