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女孩，1岁半，父母为表兄妹结婚，生后外表无明显异常，5月龄后头发渐变为黄褐色，眼珠4个月以后也变为棕色，至今不能独坐，不会叫爸爸妈妈，一次惊厥，尿霉臭味，尿三氧化铁试验阳性。此患儿最有可能患有下列哪项疾病A、白化病 B、脑白质营养不良 C、甲状腺功能低下 D、苯丙酮尿症 E、糖原累积病 确诊首选检查是A、测定血糖 B、测定血苯丙氨酸浓度 C、染色体检查 D、测定血酪氨酸值 E、肝脏活检病理学检查 确诊后应A、立即进行低苯丙氨酸饮食治疗至症状消失 B、立即进行无苯丙氨酸饮食治疗 C、立即进行低苯丙氨酸饮食治疗并至少维持至青春期以后 D、立即进行低苯丙氨酸饮食治疗并维持至学龄前期 E、立即进行低苯丙氨酸饮食治疗至终生
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