Department of Neurology, National Institute of Mental Health and Neuro Sciences, Post Bag 2900, Hosur Road, Bangalore 560029, India.
Clin Biochem. 2010 Apr;43(6):581-8. doi: 10.1016/j.clinbiochem.2009.12.009. Epub 2009 Dec 21.
Tandem mass spectrometry is a major technological advance in the screening for inborn errors of metabolism. It has the advantage of sensitive and simultaneous multiple disease screening with minimal sample requirement. The diseases detected include aminoacidemias, fatty acid oxidation disorders, and organic acidemias.
Using automated electrospray tandem mass spectrometry we screened 3550, clinically selected, symptomatic children for inborn errors of metabolism by analyzing amino acids and acylcarnitines in dried blood filter-paper samples.
Among these, 113 (3.2%) children were identified with a metabolic disorder: 61 (54%) patients had amino acid disorders, 47 (41.6%) had organic acidemias, and 5 (4.4%) children had disorders of fatty acid oxidation. The diagnoses were further confirmed through clinical symptoms, and other biochemical studies.
These results show that inherited metabolic disorders are not rare in India, a rapidly developing country with a high birth rate and relatively frequent occurrence of consanguineous marriages.
串联质谱技术是代谢性疾病筛查方面的一项重大技术进步。它具有灵敏、同时进行多种疾病筛查的优势，且所需样本量最小。所检测的疾病包括氨基酸病、脂肪酸氧化障碍和有机酸血症。
我们使用自动化电喷雾串联质谱法，通过分析干血滤纸片样本中的氨基酸和酰基肉碱，对 3550 名临床选择的有症状儿童进行代谢性疾病的筛查。
其中 113 名（3.2%）儿童被诊断为代谢紊乱：61 名（54%）患者有氨基酸紊乱，47 名（41.6%）有有机酸血症，5 名（4.4%）儿童有脂肪酸氧化障碍。这些诊断通过临床症状和其他生化研究进一步证实。
这些结果表明，遗传性代谢紊乱在印度并不罕见，印度是一个快速发展的国家，出生率高，近亲结婚相对频繁。
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