A disease spectrum analysis of 564 cases of inherited metabolic diseases tested by gas chromatography-mass spectrometry

Gas chromatography-mass spectrometry was used to test urine organic acids in 9046 subjects suspected of inherited metabolic diseases.Finally,564 cases (6.2％) with 28 kinds of diseases were identified.Among these patients,311 cases (55.1％) suffered from organic acidemias,including 13 kinds of diseases in which the most common one was methylmalonic acidemia; 203 cases (36.0％) had amino acid diseases consisting of 10 kinds,among which hyperphenylalaninemia and citrin deficiency were common; 50 cases (8.9％) had fatty acid oxidation disorders including 5 different diseases,among which multiple acyl-CoA dehydrogenase deficiency was relatively common. Key words: Gas chromatography-mass spectrometry;  Tandem mass spectrometry;  Inherited metabolic disease ;  Organic acidemias