Amino Acid Metabolism Disorders
Amino acid metabolism disorders are genetic conditions that affect how the body processes amino acids, the building blocks of proteins. These disorders can lead to the accumulation of toxic substances or a deficiency of essential compounds, resulting in various health issues. Common examples include phenylketonuria (PKU) and maple syrup urine disease (MSUD).
Individuals with these disorders may experience symptoms such as developmental delays, neurological problems, or metabolic crises. Early diagnosis through newborn screening and dietary management can help prevent serious complications. Treatment often involves a specialized diet low in specific amino acids to manage the condition effectively.