本文报道1例谷氨酰核糖-5-磷酸积聚于脑和肾的病例。病例介绍患者第1胎、男,父母无亲缘关系,妊娠、分娩过程无特殊。2岁后出现语言障碍,3岁1个月时曾高热全身抽搐,以后经常有运动不能性发作。检查见小头、发育迟缓和蛋白尿。家族史三代共132人,发现有1个舅父在9个月龄时抽搐,以后出现讲话及视力障碍、高血压、肾病综合征、视神经萎缩、发育迟缓,7岁时死于肾衰竭。本例5岁9个月时就诊,发现视神经萎缩,全身张力低下,肌肉萎缩,经常发作性眼球偏向一侧及全身性强直-阵挛抽 This article reports a case of glutamyl ribose -5-phosphate accumulation in the brain and kidney cases. Case description The first patient, male, no relationship between parents, pregnancy, childbirth no special process. 2 years after the language barrier, 3 years old at 1 month had high fever convulsions, often after exercise can not attack. Check to see the small head, stunted growth and proteinuria. Three generations of family history, a total of 132 people found that a uncle at 9 months of age convulsions later speech and visual impairment, hypertension, nephrotic syndrome, optic atrophy, stunting, died of renal failure at the age of 7 years. This case of 5-year-old 9 months of treatment, found that optic atrophy, systemic tension, muscle atrophy, often attack the side of the eye and systemic tonic - clonus pumping