Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry

• Published in: Zhong hua yi xue za zhi Vol. 88; no. 30; p. 2122
• Main Authors: Han, Lian-Shu, Ye, Jun, Qiu, Wen-Juan, Gao, Xiao-Lan, Wang, Yu, Jin, Jing, Gu, Xue-Fan
• Format: Journal Article
• Language: Chinese
• Published: China 05.08.2008
• Subjects: Adolescent; Amino Acids - blood; Child; Child, Preschool; DNA Mutational Analysis; Female; Gas Chromatography-Mass Spectrometry - methods; Humans; Infant; Infant, Newborn; Male; Metabolic Diseases - blood; Metabolic Diseases - diagnosis; Metabolic Diseases - genetics; Reproducibility of Results; Sensitivity and Specificity; Tandem Mass Spectrometry - methods
• ISSN: 0376-2491

To investigate the effects of tandem mass spectrometry (MS/MS) combined with gas chromatography mass spectrometry (GC-MS) in the diagnosis of inborn errors of metabolism in children. Amino acids and acylcarnitines in the dry blood filter papers were tested by MS/MS, and the organic acid profiles in urea were tested by GC-MS among 4981 children suspected to be with inborn errors of metabolism from more than 100 hospitals in China. A few pediatric patients underwent analysis of activity of enzyme and gene mutation analysis too. 319 of the 4981 children (6.4%) were diagnosed as with 24 kinds of diseases: 155 of the 319 cases (48.6%) with 8 kinds of amino acid diseases (97 with hyperphenylalaninemia, 14 with maple syrup urine disease 13 with ornithine transcarbamylase deficiency, 13 with citrullinemia type II, 10 with tyrosinemia type I, 5 with citrullinemia type I, 2 with homocystinuria, and 1 with arginasemia); 150 of the 319 cases (47.0%) were diagnosed as with 10 kinds of organic acidemias (81 with methylmalo