Metabolic diseases

Metabolic diseases are a complex field.

They comprise of a huge amount of diseases potentially affecting a wide range of systems in the human body. Moreover, symptoms may be extremely diverse and sometimes faint, making those diseases difficult to diagnose.

BARC laboratories offer a portfolio of tests to assess metabolic diseases from different origins in order to assist clinicians with specific patient-management.

Various techniques are used, including sequencing in molecular biology, since most of those diseases have a genetic origin.

This group of diseases is characterized by the accumulation of abnormal metabolites or normal metabolites in pathological quantities, such as:

• Porphyrins
• Amino acids
• Long-chain fatty acids 
• Very long-chain fatty acids
• Organic acids
• Lysosomal enzymes

In addition, BARC has developed methods for studying the metabolome through the characterization of the intestinal microbiome.