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Biomedical Basics

Metabolic disorders

  • Created by Henry Stewart Talks
Published on July 30, 2026   4 min

A selection of talks on Cardiovascular & Metabolic

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In this talk, the focus is metabolic disorders, supported by coverage of the fundamentals of metabolic disorders, including their causes, examples, and how they affect the body's chemical processes. We will discuss how these disorders present across all ages, the importance of clinical and laboratory evaluation in their diagnosis and the various approaches to treatment. Additionally, the lecture will introduce the principles of clinical biochemistry and laboratory medicine, highlighting their evolution and significance in diagnosing and managing metabolic diseases. We will explore metabolic disorders, examining what happens when the body's chemical reactions are disrupted. These disorders occur when there is a malfunction in how our body converts food to energy and builds blocks for growth and repair, usually due to defects in specific enzymes or transport proteins. Defects may be inherited from mutations or acquired due to environmental triggers, diet, or illness. Recognizing both genetic and lifestyle factors sets the stage for understanding these conditions. The term metabolic disorder covers many conditions. Classic inherited metabolic disorders include fennel ketonuria, PKU, where a defect in an enzyme leads to toxic buildup, glycogen storage diseases, fatty acid oxidation disorders like MCAD deficiency, and lysosomal storage diseases such as Gaucher or Pompei disease. Acquired disorders include diabetes melitis

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