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Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates.
Human Heredity ( IF 1.8 ) Pub Date : 2018-07-24 , DOI: 10.1159/000488876
Fatemeh Keyfi , Mojila Nasseri , Samira Nayerabadi , Amin Alaei , Armin Mokhtariye , Abdolreza Varasteh

OBJECTIVE Inborn errors of metabolism (IEMs) are disorders with various manifestations that occur mainly in the pediatric population. In countries where consanguineous marriage is common, the association between consanguinity and IEMs is highly important. No studies have been conducted in Iran examining the impact of consanguinity on IEMs. METHODS In this retrospective study, the incidences of metabolic disorders were evaluated for the years 2006 through 2016 in the North East Iran Regional Diagnostic Laboratory (Pardis Clinical and Genetic Laboratory). A total of 13,327 infants with clinical symptoms were referred and investigated for IEMs. Newborn screening was performed on samples from all patients suspected of having IEMs. RESULTS Of 13,327 infants examined, 60 different IEMs were diagnosed in 1,118. The most frequent disorders among our patients were glucose-6-phosphate dehydrogenase deficiency (G6PDD) (14.04%), methylmalonic and propionic acidurias (MMA/PA) (9.12%), phenylketonuria (PKU) (8%), and isovaleric acidemia (IVA) (6.98%). A significant difference was found in the prevalence of amino acid disorders between the offspring of consanguineous and those of non-consanguineous parents. No statistically significant differences were found between the 2 groups for organic or fatty acids, carnitine or urine cycles, or lysosomal storage disorders. A total of 707 of the 1,118 infants with metabolic diseases (63.24%) were children of consanguineous parents. These findings show that consanguinity can be an important factor in the inheritance of recessive mutations in a homozygous state. CONCLUSION This study found a greater frequency of metabolic diseases in offspring of consanguineous parents than in those of non-consanguineous parents in a population with a high rate of consanguinity.

中文翻译:

具有高血缘比率的伊朗东北部样本中代谢的先天错误频率。

目的先天性代谢错误(IEM)是具有各种表现的疾病,主要发生在儿科人群中。在近亲通婚的国家,近亲与IEM之间的联系非常重要。伊朗尚未进行研究以检查血缘关系对IEM的影响。方法在这项回顾性研究中,评估了伊朗东北部地区诊断实验室(Pardis临床与遗传实验室)2006年至2016年的代谢异常发生率。共有13327名具有临床症状的婴儿被转介并调查了IEM。对所有怀疑患有IEM的患者的样本进行新生儿筛查。结果在检查的13327例婴儿中,有1118例被诊断出60种不同的IEM。在我们的患者中,最常见的疾病是6-磷酸葡萄糖脱氢酶缺乏症(G6PDD)(14.04%),甲基丙二酸和丙酸尿症(MMA / PA)(9.12%),苯丙酮尿症(PKU)(8%)和异戊酸血症( IVA)(6.98%)。发现近亲血亲与非近亲血亲后代的氨基酸疾病患病率存在​​显着差异。两组之间在有机或脂肪酸,肉碱或尿液循环或溶酶体贮积症方面没有统计学上的显着差异。在1,118名患有代谢性疾病的婴儿中,有707名(63.24%)是近亲父母的孩子。这些发现表明,血缘关系可能是纯合状态下隐性突变遗传的重要因素。
更新日期:2019-11-01
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