6th February 2024

Examples

Amino acids are the building blocks of proteins which play crucial roles in various physiological processes. When their metabolism is disrupted, it can lead to a range of disorders with diverse symptoms and complications. Disorders of amino acid metabolism are a group of inherited metabolic disorders that affect the breakdown, synthesis or transportation of amino acids within the body. Many distinct disorders exist. However, only a few more commonly known examples will be discussed here:

• Phenylketonuria
• Homocystinuria
• Alkaptonuria
• Cystinosis
• Cystinuria
• Oxalosis
• Maple syrup disease