Genetic Metabolic Disorders
Genetic metabolic disorders are conditions caused by abnormalities in the body's metabolism, which is the process of converting food into energy. These disorders often result from mutations in specific genes that affect enzymes responsible for breaking down nutrients. Examples include phenylketonuria (PKU) and maple syrup urine disease, which can lead to serious health issues if not managed properly.
Individuals with genetic metabolic disorders may experience a range of symptoms, including developmental delays, physical disabilities, and organ dysfunction. Early diagnosis through newborn screening and appropriate dietary management can help mitigate the effects of these disorders, allowing individuals to lead healthier lives.