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Updated: Jun 4, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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训练机器学习模型以检测基于GC-MS尿液代谢因子的罕见先天性代谢错误 (IEM),用于疾病查

Haomin Li1, Siyuan Gao2, Dan Wu3

  • 1Clinical Data Center, the Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, China.

International journal of medical informatics
|December 20, 2024
PubMed
概括

机器学习模型增强了对代谢先天性错误 (IEM) 查的气色谱-质谱学 (GC-MS) 解释. 这种方法显著提高了从复杂的GC-MS配置文件中识别罕见IEM病例的效率和准确性.

关键词:
疾病查 疾病查在GCMS中使用.不平衡的分类是不平衡的代谢的先天性错误 代谢的先天错误机器学习是机器学习.

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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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