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Please note that we are not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.


Metabonomic Analysis Service

Metabonomic analysis systematically resolves the types and quantities of all metabolites in an organism and metabolic pathways and biochemical reactions of certain substances, reflecting important information about the physiological status and biochemical processes. Our company provides high-tech personalized metabonomic analysis services to help you quickly analyze the metabonomic signatures related to rare diseases.

Metabonomics in Rare Disease

Metabonomic provides information on the metabolism of a variety of substances including glucose, amino acids, fatty acids, hormones, enzymes, and other organic molecules. In rare diseases, abnormal accumulation of certain substances often leads to serious damage to the body's metabolism. These accumulations can be brought about by genetic mutations, faulty metabolic pathways, or defective enzyme functions, resulting in the obstruction of normal cell signaling, energy production, or toxicant metabolism pathways. This destructive metabolic disorder affects the internal balance of cells, and then causes tissue and organ dysfunction.

Metabolomics Analysis Service-1Fig.1 Process for biomarker discovery by metabonomics (Saigusa D, et al., 2021)

Metabolic Pathway in Rare Disease

Metabonomic can systematically reflect how an individual's metabolic pathways are altered or hindered, provideing the background for understanding the pathogenesis of rare diseases and identifying possible biomarkers. The application of metabolomics in maple syrup urine disease (MSCD) studies revealed that the dysfunction of branched-chain α-ketoacid dehydrogenase leads to the increased level of branched-chain amino acids (BCAAs), and the dysfunction of related catalytic pathways causes abnormalities in the multiple systems.

Genotype-Phenotype Correlations in Rare Disease

Some rare diseases differ in phenotype without a genotype directly associated with them. This absence of exact genotype-phenotype correlations prompts the analysis of the different degrees of pathogenesis of rare diseases from the perspective of metabolites. Infants with cystic fibrosis (CF) have similar genotypes but vary in phenotypes. The metabonomic result is able to identify specific metabolic pathways and regulators from CF infants, and further targeted metabonomics have the potential to continue to identify metabolic differences between phenotypes.

Drug Metabolism Studies in Rare Disease

Drug metabolism studies in rare diseases are essential for understanding how medications are processed and utilized by individuals, and are fundamental for optimizing drug therapies, minimizing risks, and improving the overall management. Monitoring urinary metabolic profile by metabolomics provides detailed information on drug metabolism and physiological improvement for patients with phenylketonuria (PKU) during treatment.

Our Services

Metabolomics analysis uses cutting-edge multiple detection technologies to comprehensively analyze metabolites, providing valuable references for the diagnosis and treatment of rare diseases. Our company has a comprehensive diagnostic development system and provides you with a mature metabolomics analysis team to escort the metabolomics analysis of rare diseases. Our services include but are not limited to:

  • Untargeted Metabonomic Analysis Service
    Identify and quantify a wide range of metabolites in biological samples rather than specifically targeting certain compounds.
  • Targeted Metabonomic Analysis Service
    Measure quantitatively a specific set of defined metabolites or metabolic pathways within biological samples.
  • Lipidomics Analysis Service
    Focus on and comprehensively identify and characterize lipids involved in various biological processes.
  • Unknown Metabolites Identification Service
    Combine with analytical techniques and artificial intelligence to accurately and effectively identify unknown metabolites.
  • Metabolites Over Time Analysis Service
    Analyze changes in metabolites and metabolic pathways over time in rare disease cases.
  • Toxic Metabolites Identification Service
    Identify the metabolites and derivatives associated with drug exposure and toxicity.

Our services will help you achieve the goals as follows:

  • Advancing proteomics research on rare diseases
  • Differential diagnosis and endotype classification of rare diseases
  • Prediction of rare disease progression
  • Detection of pathophysiologic mechanisms and potential drug targets
  • Development of new diagnostics and prognostics

Project Workflow

  • Sample Collection
    Sample Collection
  • Metabolite Extraction and Digestion
    Metabolite Extraction & Digestion
  • MS Analysis
    MS Analysis
  • Bioinformation Analysis
    Bioinformation Analysis
  • Validation and Testing
    Validation & Testing

Our Advantages

Outstanding and professional project designer

Outstanding and professional project designer

Close communication of multidisciplinary

Close communication of multidisciplinary

Good qualifications and standards

Good qualifications and standards

Rapid procedural analysis process

Rapid procedural analysis process

With experienced metabolic biology experts and first-class and complete mass spectrometry detection equipment, Our company provides precise, performant and valuable metabolomics analysis services to help you obtain metabolite profiles related to rare diseases. If you are interested in our proteomics analysis service, please feel free to contact us for more information.


  • Saigusa D, et al. Identification of biomarkers to diagnose diseases and find adverse drug reactions by metabolomics. Drug Metab Pharmacokinet. 2021 Apr; 37: 100373.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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