目的:评估临床,放射学,以及在巴基斯坦生化遗传学实验室(BGL)通过尿液有机酸测试确定的戊二酸尿症1型(GA1)患者的生化特征。
方法:观察性研究。研究的地点和持续时间:病理学和实验室医学系,阿加汗大学医院,卡拉奇,巴基斯坦,2013年1月至2022年12月。
方法:回顾了2013年1月至2022年12月在BGL出现的患者的医学图表和尿液有机酸(UOA)色谱图。在可用的情况下获得脑成像。根据目标记录变量,并获得描述性统计数据。
结果:在16,094例UOA高危筛查病例中,有64例(0.4%)患者发现了GA1。诊断年龄为1个月至3岁。脑部MRI检查结果揭示了脑萎缩等特征性异常,扩大的CSF空间,白质异常,和独特的蝙蝠翅膀外观,与生化测试结果的一致性。
结论:来自单个中心的64例GA1表明巴基斯坦的这种疾病的发生率很高。晚期诊断强调需要提高临床意识,最好是新生儿筛查,以确保最佳结果。
背景:戊二酸尿症1型(GA1),脑成像,UOA分析,戊二酰辅酶A脱氢酶(GCDH),巴基斯坦。
OBJECTIVE: To evaluate the clinical, radiological, and biochemical features of glutaric aciduria Type 1 (GA1) patients identified through urine organic acid testing at a biochemical genetics laboratory (BGL) in Pakistan.
METHODS: Observational study. Place and Duration of the Study: Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan, from January 2013 to December 2022.
METHODS: Medical charts and urine organic acid (UOA) chromatograms of the patients presenting at the BGL from January 2013 to December 2022 were reviewed. Brain imaging was obtained where available. Variables were noted as per the objective and descriptive statistics were obtained.
RESULTS: GA1 was found in 64 (0.4%) patients out of a total of 16,094 UOA requests for high-risk screening cases. The age of diagnosis ranged between one month and three years. The brain MRI findings revealed characteristic abnormalities such as cerebral atrophy, expanded CSF spaces, white matter abnormalities, and a distinct bat wings appearance, in cohesion with the results of biochemical testing.
CONCLUSIONS: Sixty-four cases of GA1 from a single centre indicate a high frequency of the disorder in Pakistan. Late diagnosis emphasises the need for increased clinical awareness and preferably newborn screening to ensure optimal outcomes.
BACKGROUND: Glutaric aciduria Type 1 (GA1), Brain imaging, UOA analysis, Glutaryl-CoA dehydrogenase (GCDH), Pakistan.