Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
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DOI：
10.1007/s10545-009-9004-y
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发表时间：
2010-02-01
影响因子：
4.2
通讯作者：
Campistol, Jaume
中科院分区：
文献类型：
--
作者：
Sempere, Angela;Arias, Angela;Campistol, Jaume
精神发育迟滞（MR）是一种常见的疾病，常常病因不明.因为有一些关于MR和先天性代谢缺陷（IEM）的研究，我们的目的是确定一个队列的944例不明原因的MR。生化检查，如肌酸（Cr）代谢产物，酰基肉毒碱，嘌呤和嘧啶尿中的测定IEM患者。我们发现了7例IEM患者[3例患有脑Cr缺乏综合征（CCDS）]，1例患有腺苷酸琥珀酸裂解酶（ADSL）缺乏症，3例在加泰罗尼亚新生儿代谢筛查计划之前出生的苯丙酮尿症（PKU）。总而言之，他们占整个队列的0.8%。他们都有其他症状，如癫痫，运动障碍，自闭症和其他精神障碍。总之，在MR患者中，必须对相关体征和症状进行全面评估，并且在大多数疾病中，有必要进行特定分析。在某些情况下，重要的是实现早期诊断和治疗，这可能会降低发病率，并提供遗传咨询。
Mental retardation (MR) is a common disorder frequently of unknown origin. Because there are few studies regarding MR and inborn errors of metabolism (IEM), we aimed to identify patients with IEM from a cohort of 944 patients with unexplained MR. Biochemical examinations such as determination of creatine (Cr) metabolites, acylcarnitines, purine, and pyrimidines in urine were applied. We found seven patients with IEM [three with cerebral Cr deficiency syndromes (CCDS)], one with adenylosuccinate lyase (ADSL) deficiency, and three, born before the neonatal metabolic screening program in Catalonia, with phenylketonuria (PKU). All told, they represent 0.8% of the whole cohort. All of them had additional symptoms such as epilepsy, movement disorders, autism, and other psychiatric disturbances. In conclusion, in patients with MR, it is essential to perform a thorough appraisal of the associated signs and symptoms, and in most disorders, it is necessary to apply specific analyses. In some cases, it is important to achieve an early diagnosis and therapy, which may reduce the morbimortality, and to offer genetic counselling.