Abstract：
To determine the incidence and types of inborn errors of metabolism (IEMs) in high-risk children using mass spectrometry techniques.
Children considered high-risk for IEM were screened for metabolic diseases during a 3-y period. Dried blood spots and urine samples were analyzed by tandem mass spectrometry (LC-MS/MS) and gas chromatograph-mass spectrometry (GCMS). Samples with abnormal amino acids were confirmed by high-performance liquid chromatography (HPLC).
Eight hundred and twenty-two suspected cases were evaluated; of which, 87 possible cases of IEMs were identified. Homocystinuria (n = 51) was the most common IEM detected followed by biotinidase deficiency (n = 7), glutaric aciduria type 1 (n = 7), and carnitine uptake defect (n = 6). Overall, there were 45 (51.7%) cases of organic acidemia, 31 cases (35.6%) of amino acid defect, 9 (10.3%) cases of fatty-acid oxidation disorders, and 2 (2.3%) cases of probable mitochondrial disorder.
IEMs are common in India, with a hospital-based incidence of 1 in approximately 6642 among high-risk children. Screening of high-risk children by mass spectrometry techniques is a valuable strategy for early diagnosis of IEMs where universal newborn screening is not yet available.
Children considered high-risk for IEM were screened for metabolic diseases during a 3-y period. Dried blood spots and urine samples were analyzed by tandem mass spectrometry (LC-MS/MS) and gas chromatograph-mass spectrometry (GCMS). Samples with abnormal amino acids were confirmed by high-performance liquid chromatography (HPLC).
Eight hundred and twenty-two suspected cases were evaluated; of which, 87 possible cases of IEMs were identified. Homocystinuria (n = 51) was the most common IEM detected followed by biotinidase deficiency (n = 7), glutaric aciduria type 1 (n = 7), and carnitine uptake defect (n = 6). Overall, there were 45 (51.7%) cases of organic acidemia, 31 cases (35.6%) of amino acid defect, 9 (10.3%) cases of fatty-acid oxidation disorders, and 2 (2.3%) cases of probable mitochondrial disorder.
IEMs are common in India, with a hospital-based incidence of 1 in approximately 6642 among high-risk children. Screening of high-risk children by mass spectrometry techniques is a valuable strategy for early diagnosis of IEMs where universal newborn screening is not yet available.
摘要：
使用质谱技术确定高危儿童先天性代谢错误（IEM）的发生率和类型。
被认为是IEM高风险的儿童在3年期间进行代谢疾病筛查。通过串联质谱法(LC-MS/MS)和气相色谱-质谱法(GCMS)分析干燥的血斑和尿液样品。通过高效液相色谱(HPLC)确认具有异常氨基酸的样品。
评估了82例疑似病例；其中，确定了87例可能的IEM病例。同型半胱氨酸尿症（n=51）是检测到的最常见的IEM，其次是生物素酶缺乏症（n=7），戊二酸尿症1型（n=7），和肉碱摄取缺陷（n=6）。总的来说,有45例（51.7%）有机酸血症，氨基酸缺陷31例（35.6%），9例（10.3％）脂肪酸氧化障碍，和2例（2.3％）可能的线粒体疾病。
IEM在印度很常见，在高危儿童中，以医院为基础的发病率约为1/6642。通过质谱技术筛查高危儿童是早期诊断IEM的有价值的策略，因为IEM尚未普及新生儿筛查。
被认为是IEM高风险的儿童在3年期间进行代谢疾病筛查。通过串联质谱法(LC-MS/MS)和气相色谱-质谱法(GCMS)分析干燥的血斑和尿液样品。通过高效液相色谱(HPLC)确认具有异常氨基酸的样品。
评估了82例疑似病例；其中，确定了87例可能的IEM病例。同型半胱氨酸尿症（n=51）是检测到的最常见的IEM，其次是生物素酶缺乏症（n=7），戊二酸尿症1型（n=7），和肉碱摄取缺陷（n=6）。总的来说,有45例（51.7%）有机酸血症，氨基酸缺陷31例（35.6%），9例（10.3％）脂肪酸氧化障碍，和2例（2.3％）可能的线粒体疾病。
IEM在印度很常见，在高危儿童中，以医院为基础的发病率约为1/6642。通过质谱技术筛查高危儿童是早期诊断IEM的有价值的策略，因为IEM尚未普及新生儿筛查。
