Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China

Journal of Pediatric Endocrinology & Metabolism : JPEM
MinYan JiangYanNa Cai

Abstract

Inborn errors of metabolism (IEM) have been detected worldwide using gas chromatography mass spectrometry (GC-MS) since the 1980s, but few related reports exist on the incidence, spectrum, and clinical presentation features of IEM in southern China. From January 2009 to March 2012, 16,075 urine samples were collected from patients who were highly suspected of having IEM in Guangzhou Women and Children's Medical Center. The specimens were evaluated using GC-MS. We diagnosed 303 cases of IEM by urine GC-MS analysis, including 197 cases with amino acid disorders, 86 cases with organic acidurias (OAs), 10 cases with fatty acid oxidative (FAO) disorders, and 10 cases with peroxisomal disorders. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) was the most common (153 cases), followed by methylmalonic aciduria (48 cases), urea cycle disorders (21 cases), phenylketonuria (20 cases), propionic aciduria (11 cases), X-linked adrenoleukodystrophy (10 cases), multiple carboxylase deficiency (8 cases), glutaric aciduria type I (7 cases), isovaleric aciduria (6 cases), glutaric aciduria type II (4 cases), short-chain acyl-CoA dehydrogenase deficiency (4 cases), 3-hydroxy-3-methylglutaric aciduria (3 cases), maple syrup u...Continue Reading

References

Jan 1, 1994·European Journal of Pediatrics·W Lehnert
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Dec 21, 2011·Journal of Medical Screening·Wen-Jun TuXiao-Dong Shi

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Citations

Mar 21, 2017·Journal of the American Society for Mass Spectrometry·Chandra Shekar R AmbatiVivekananda Shetty
Jun 5, 2018·Intractable & Rare Diseases Research·Xiaoyan ZhouJinxiang Han
Nov 24, 2018·Journal of Mass Spectrometry : JMS·Zhongping HuangYiping Ren
Mar 30, 2017·Experimental and Therapeutic Medicine·Xiaoying Zhang, Qiong Luo

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