Improving Rare Disease Diagnosis with Metabolomics

Metabolomics could be a general study of metabolites that are tiny molecules produced by the method of metabolism. The metabolic profile of secretion will give associate degree early outlook of the changes related to a large vary of diseases. It's attainable to measure levels of disease‐specific metabolites exploitation completely different strategies as given during this study. Metabolites, especially when present at atypical levels, can be indicators of rare metabolic diseases. Understanding the implicated metabolic pathways is essential for successful disease diagnosis and treatment. 


  • Metabolomics for the Screening and Diagnosis of Rare Disease
  • Undiagnosed diseases network Metabolomics core
  • Integration of clinical metabolomic profiling with interpretation of genetic variants improves diagnosis of rare disease

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