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男,1岁,因发热咳喘2天,以支气管肺炎入院。第一胎第一产,足月顺产,人工喂养,家族史不详(系抱养儿)。生后尿有明显“鼠尿味”,3个月始头发由黑渐转黄,较纤细,面部及周身有顽固性“湿疹”,易激惹。智力明显落后于同龄儿,至今不会坐,不认人,不会发单音。体检:体重10公斤,身长75厘米,头围45厘米,皮肤白嫩,面及周身皮肤皱襞处可
Male, 1 year old, due to fever, cough 2 days to bronchial pneumonia admission. The first birth of the first birth, term full-term, artificial feeding, family history is unknown (Department of child-bearing). Postnatal urination obvious “rat urine”, 3 months before the hair turns from black to yellow, more slender, face and whole body with intractable “eczema”, irritability. Intellectually lag behind their peers, so far will not sit, do not recognize people, will not pronounce. Physical examination: Weight 10 kg, length 75 cm, head circumference 45 cm, the skin white and tender, the face and skin wrinkles around the body can be