Metabolic Diseases

Metabolic diseases are a diverse group of disorders that disrupt the body's ability to process nutrients and maintain essential biochemical pathways. These conditions often stem from genetic mutations affecting enzymes or metabolic processes, leading to a range of symptoms and complications. Common examples include diabetes mellitus, phenylketonuria, and various lipid metabolism disorders.

Biochemical testing for metabolic diseases involves analyzing biological samples such as blood, urine, saliva, or tissues to detect abnormalities in biochemical pathways or enzyme activities associated with specific disorders. Techniques may include measuring blood glucose levels for diabetes, assessing amino acid levels in urine for phenylketonuria, or analyzing lipid profiles to identify abnormalities in fat metabolism. Accurate biochemical testing is crucial for early diagnosis, monitoring disease progression, and guiding personalized treatment plans aimed at managing symptoms, preventing complications, and improving patient outcomes.