Aetiology of Metabolic Disorders

Metabolic disorders are caused by a disturbance in the processes of the body that are responsible for maintaining life. These processes are collectively referred to as metabolism.
Metabolism involves numerous biochemical reactions such as the breakdown of nutrients in digested food, synthesis of necessary compounds, disposal of waste materials, and the control of energy balance.
Metabolic disorders can be caused by a deficiency in a particular enzyme. Enzymes are proteins that facilitate biochemical reactions. A deficiency may result in a particular metabolic process not functioning properly.
The aetiology, or cause, of a metabolic disorder can be genetic, such as in Phenylketonuria (PKU), where the body cannot properly process a certain amino acid known as phenylalanine.
Other genetic metabolic disorders include Galactosemia, where the body cannot process the sugar galactose, and Glycogen storage diseases, where the body has problems processing or breaking down sugars.
Acquired metabolic disorders, on the other hand, result from other disease conditions like diabetes.
Diabetes, a prominent metabolic disorder, is characterized by the misregulation of blood sugar levels. This can be due to the body not producing enough insulin, or not responding properly to the insulin that is produced.
Lifestyle factors, such as diet and lack of exercise, also play a major role in the aetiology of metabolic disorders. A diet rich in fats and sugars, lack of physical activity and obesity can increase the risk of developing metabolic disorders like diabetes.
Lastly, some metabolic disorders, such as Wilson disease, gout, and hemochromatosis, are caused by the accumulation of toxic substances such as copper, uric acid, and iron respectively, in the body’s tissues.
Knowledge of the aetiology of metabolic disorders is essential in finding appropriate treatments. For some disorders, medications can be used to control symptoms. For others, dietary management, exercise, and maintaining a healthy lifestyle can be effective strategies. Moreover, genetic counselling may be recommended for couples with a family history of inherited metabolic disorders before conception.