患儿邹某某女,1岁零9个月,自出生后6个月头发开始变黄,逐渐加重,并出现抽动,头、躯干前倾,双臂屈曲,舌抖动,智力低下,一周岁时仍不能坐,不会笑,不能认父母,目光呆滞,对周围环境无反应,尿有霉臭味。系足月顺产,无产伤、窒息,无家族病史。体查:表情痴呆皮肤白嫩,毛发稀黄、无光 Zou Moumou children, 1 year and 9 months, 6 months after birth hair began to turn yellow, and gradually increased, and tics, head and trunk anteversion, flexing his arms, tongue jitter, mental retardation, one year old Still can not sit, will not laugh, can not recognize their parents, dull eyes, no reaction to the surrounding environment, urine moldy smell. Department of full-term birth, no birth injury, suffocation, no family history of illness. Physical examination: expression dementia skin white, thin yellow hair, dull