Najafi Reza, Hashemipour Mahin, Yaghini Omid, Najafi Fatemeh, Rashidianfar Amirsalar
Department of Pediatric Endocrinology and Metabolism, Ilam University of Medical Sciences, Ilam, Iran; Endocrine and Metabolism Research Center, University of Medical Sciences, Isfahan, Iran.
Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
Indian J Endocrinol Metab. 2016 Sep-Oct;20(5):679-683. doi: 10.4103/2230-8210.190556.
Aminoacidopathies refer to defects in protein synthesis pathways which result in a range of biochemical disorders and clinical presentations. The enzyme defects in intermediate metabolic pathways lead to accumulation of one or more amino acids or metabolites. Despite higher prevalence rates, screening infants for inherited metabolic disorders is not run in many Middle East countries.
This research is part of a larger study of inherited metabolic disorders to characterize and measure the prevalence of aminoacidopathies.
Cross-sectional study in the population aged 0-17 years old in Isfahan province of Iran, 2007-2015.
Demographic characteristics, history of disease, development of clinical condition and socioeconomic status were obtained from interviews as well as patient records of pediatric tertiary referral hospitals and metabolic disorders centers.
SPSS qualitative and quantitative analysis.
The incidence rate of aminoacidopathies was derived to be 9/100,000 live births. The frequency of consanguineous marriages in this group of the patients was 89.2%. Of the patients with aminoacidopathies, 76.6% required hospitalization with tyrosinemia having the highest rate overall (>10 times). The most prevalent symptoms in this group of patients were developmental disorders and convulsions while half presented with growth disorders during follow-up. Of the 35.5% patients, who died at various ages, one-third was in the maple syrup urine disease subgroup.
Although metabolic disorders are identified as rare diseases, they are more prevalent in the studied population of Isfahan.
氨基酸病是指蛋白质合成途径中的缺陷，可导致一系列生化紊乱和临床表现。中间代谢途径中的酶缺陷会导致一种或多种氨基酸或代谢产物的积累。尽管发病率较高，但许多中东国家并未对婴儿进行遗传性代谢疾病筛查。
本研究是一项关于遗传性代谢疾病的大型研究的一部分，旨在对氨基酸病进行特征描述并测量其患病率。
2007年至2015年在伊朗伊斯法罕省对0至17岁人群进行的横断面研究。
通过访谈以及儿科三级转诊医院和代谢疾病中心的患者记录，获取人口统计学特征、疾病史、临床病情发展和社会经济状况。
SPSS定性和定量分析。
氨基酸病的发病率为每10万例活产9例。该组患者中近亲结婚的频率为89.2%。在患有氨基酸病的患者中，76.6%需要住院治疗，酪氨酸血症的总体住院率最高（超过10倍）。该组患者最常见的症状是发育障碍和惊厥，而一半患者在随访期间出现生长障碍。在不同年龄段死亡的35.5%患者中，三分之一属于枫糖尿症亚组。
尽管代谢紊乱被认定为罕见疾病，但在伊斯法罕的研究人群中更为普遍。
