Majid Hafsa, Jafri Lena, Khan Aysha Habib, Ali Zeba Zulfiqar, Jamil Azeema, Yusufzai Nasir, Fatimah Midhat, Afroze Bushra
Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, Aga Khan University.
Department of Paediatrics & Child Health, Aga Khan University Hospital, Karachi.
J Pak Med Assoc. 2018 Apr;68(4):510-514.
To determine the frequency of disorders leading to methylmalonic acidurias.
This cross-sectional study was conducted from January 2013 to April 2016 at the Aga Khan University Hospital, Karachi, and comprised patients diagnosed with methylmalonic acidurias based on urine organic acid analysis. Clinical history and biochemical data was collected from the biochemical genetics laboratory requisition forms. Organic acid chromatograms of all the subjects were critically reviewed by a biochemical pathologist and a metabolic physician. For assessing the clinical outcome, medical charts of the patients were reviewed. SPSS 19 was used for data analysis.
Of the 1,778 patients 50(2.81%) were detected with methylmalonic acidurias. After excluding patients with non-significant peaks of methylmalonic acidemia, 41(2.31%) were included in the final analysis. Of these, 20(48.7%) were females, while the overall median age was 11.5 months (interquartile range: 6-41.5). On stratification by type of disorders leading to methylmalonic acidurias, 9(22%) had methylmalonic acidemia, 12(29%) had Cobalamin-related remethylation disorders, nonspecific methylmalonic acidurias in 16(39%), while 2(5%) each had succinyl coenzyme A synthetase and Vitamin B12 deficiency. respectively.
Screening tests, including urine organic acid, provided valuable clues to the aetiology of methylmalonic acidurias.
确定导致甲基丙二酸尿症的疾病发生率。
本横断面研究于2013年1月至2016年4月在卡拉奇的阿迦汗大学医院进行，纳入了根据尿有机酸分析诊断为甲基丙二酸尿症的患者。从生化遗传学实验室申请单中收集临床病史和生化数据。所有受试者的有机酸色谱图由一位生化病理学家和一位代谢内科医生进行严格审查。为评估临床结局，查阅了患者的病历。使用SPSS 19进行数据分析。
在1778例患者中，50例（2.81%）检测出甲基丙二酸尿症。排除甲基丙二酸血症峰值无意义的患者后，41例（2.31%）纳入最终分析。其中，20例（48.7%）为女性，总体中位年龄为11.5个月（四分位间距：6 - 41.5）。按导致甲基丙二酸尿症的疾病类型分层，9例（22%）患有甲基丙二酸血症，12例（29%）患有钴胺素相关的再甲基化障碍，16例（39%）为非特异性甲基丙二酸尿症，而各有2例（5%）患有琥珀酰辅酶A合成酶缺乏症和维生素B12缺乏症。
包括尿有机酸在内的筛查试验为甲基丙二酸尿症的病因提供了有价值的线索。
