Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four‐year report

Summary We have initiated clinical selective screening for inborn errors of metabolism in China by analysing amino acids and acylcarnitines in a dried blood filter‐paper samples using tandem mass spectrometry. Samples from a total of 3070 children suspected of inborn errors of metabolism were collected through a study network which covered most provinces of China. The diagnoses were further confirmed through clinical symptoms, by gas chromatography–mass spectrometry and other biochemistry studies, and in a few cases by DNA analysis. In all, 212 cases were diagnosed (6.6%) including 92 (43.4%) with amino acids disorders (48 with phenylketonuria, 12 with ornithine carbamoyltransferase deficiency, 7 with tyrosinaemia type I, 9 with maple syrup urine disease, 5 with citrullinaemia type I, 8 with citrullinaemia type II, 2 with homocystinuria, and 1 with argininaemia); 107 (50.5%) with organic acid disorders (including 58 with methylmalonic acidaemia, 13 with propionic acidaemia, 6 with isovaleric acidaemia, 7 with glutaric acidaemia type I, 6 with 3‐methylcrotonyl‐CoA carboxylase deficiency, 2 with 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency, 10 with multiple carboxylase deficiency, and 5 with β‐ketothiolase deficiency); and 13 (6.1%) with fatty acid oxidation disorders (including 1 with carnitine palmitoyltransferase deficiency type I, 1 with carnitine palmitoyltransferase deficiency type II, 1 with short‐chain acyl‐CoA dehydrogenase deficiency, 5 with medium‐chain acyl‐CoA dehydrogenase deficiency, 3 with very long‐chain acyl‐CoA dehydrogenase deficiency, and 2 with multiple acyl‐CoA dehydrogenase deficiency). It is suggested that tandem mass spectrometry is useful for selective screening of clinically suspected patients. The majority of diseases (94%) in this study were amino acid disorders and organic acid disorders. Fatty acid oxidation disorders are relatively rare in the Chinese, but medium‐chain acyl‐CoA dehydrogenase deficiency should be further investigated.