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Objective By analyzing the original detection results of urine organic acids in Changchun, Jilin Province, this study aims to explore the incidence of genetic metabolic diseases related to urine organic acid detection projects in Changchun, Jilin Province, and analyze the detection data. Methods Gas chromatography-mass spectrometry (GC-MS) was used to analyze the results of the urine organic acid detection project submitted by Jilin Jincheng Medical Co., Ltd. in Changchun, Jilin Province from January 2019 to May 2023. Results there were 83 cases of positive diseases in the initial screening, with a positive rate of 3.93%. Among them, there were 43 cases of methylmalonic acidemia with a positive rate of 51.81%, 10 cases of hyperphenylalaninemia with a positive rate of 12.05%, 6 cases of glutaric acidemia type 1 with a positive rate of 7.23%, 5 cases of Citrin protein deficiency with a positive rate of 6.02%, 5 cases of propionaemia with a positive rate of 6.02%, 4 cases of maple diabetes with a positive rate of 4.82%, and 10 cases of other diseases with a positive rate of 12.05%. Conclusion Organic acid metabolism disease, also known as organic aciduria, is the most common genetic metabolic disease. Urine organic acid screening is an effective method for preventing and treating certain genetic metabolic diseases after birth, among which methylmalonic acidemia is the most common genetic metabolic disease with abnormal organic acid metabolism. In order to improve the survival rate and quality of life of children, people must raise awareness, detect, diagnose and treat them early.
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| 科 Family | 属数 Number of genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) | 属 Genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) |
|---|---|---|---|---|---|---|
| 鹅膏菌科Amanitaceae | 2 | 11 | 5.26 | 鹅膏菌属 Amanita | 10 | 4.78 |
| 小菇科 Mycenaceae | 2 | 12 | 5.74 | 丝盖伞属 Inocybe | 5 | 2.39 |
| 多孔菌科 Polyporaceae | 8 | 14 | 6.70 | 蜡蘑属 Laccaria | 5 | 2.39 |
| 红菇科 Russulaceae | 3 | 23 | 11.00 | 小皮伞属 Marasmius | 6 | 2.87 |
| 小菇属 Mycena | 11 | 5.26 | ||||
| 光柄菇属 Pluteus | 5 | 2.39 | ||||
| 红菇属 Russula | 17 | 8.13 | ||||
| 栓菌属 Trametes | 5 | 2.39 |
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