[Disease spectrum analysis of children with inherited metabolic diseases detected by gas chromatography-mass spectrometry of urinary organic acids].

Abstract

Objective: To investigate the spectrum of amino acid, organic acid, and fatty acid oxidative metabolic diseases in children diagnosed by detecting urinary organic acid levels using gas chromatography-mass spectrometry. Methods: From January 2005 to December 2021, clinical data of 2 461 children diagnosed with inherited metabolic diseases (IMD) by gas chromatography-mass spectrometry, in combination with tandem mass spectrometry and genetic testing in Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were retrospectively analyzed. Results: Among 2 461 children, 1 446 were male and 1 051 were female. A total of 32 types of IMD were detected among 2 461 patients, which included 10 amino acid disorders in 662 cases (26.9%), 6 common diseases were hyperphenylalaninemia, citrin deficiency, ornithine carbamoyltransferase deficiency, maple syrup urine disease, alkaptonuria, and tyrosinemia-I, 17 types of organic acidemias in 1 683 cases (68.4%), 6 common diseases were methylmalonic acidemia, propionic acidemia, valeric acidemia-type Ⅰ, isovaleric acidemia, 3-methylcrotonyl-CoA carboxylase deficiency and multiple carboxylase deficiency and 5 fatty acid β oxidative defects in 116 cases (4.7%), 2 common diseases were multiple acyl-CoA dehydrogenase deficiency and short-chain acyl-CoA dehydrogenase deficiency). Conclusion: Among the diseases diagnosed by analyzing urinary organic acid profiling with gas chromatography-mass spectrometry, the most common are organic acidemias, followed by amino acid disorders and fatty acid oxidation defects.

• Authors: X X Bu, W J Qiu, H W Zhang, X L Gao, X Zhan, T Chen, F Xu, Y C Liu, X F Gu, L S Han
• Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics (Zhonghua Er Ke Za Zhi) Vol. 60 Issue 6 Pg. 522-526 (Jun 02 2022) ISSN: 0578-1310 [Print] China
• PMID: 35658356 (Publication Type: Journal Article)

Chemical References

• Amino Acids
• Fatty Acids

Topics

• Amino Acid Metabolism, Inborn Errors (diagnosis)
• Amino Acids
• Child
• China
• Fatty Acids (metabolism)
• Female
• Gas Chromatography-Mass Spectrometry (methods)
• Humans
• Male
• Metabolic Diseases (diagnosis)
• Propionic Acidemia (diagnosis)
• Retrospective Studies
• Spectrum Analysis