HYBRID EVENT: You can participate in person at Orlando, Florida, USA or Virtually from your home or work.
Metabolic disorders encompass a spectrum of conditions that disrupt the normal chemical processes within the body, impeding the conversion of food into energy. These disorders often arise from genetic defects, leading to deficiencies in enzymes or other essential molecules crucial for metabolism. They affect various bodily functions, including digestion, energy production, and waste elimination. Conditions like diabetes mellitus, characterized by high blood sugar levels, and obesity, marked by an imbalance between energy intake and expenditure, fall under this category. Inherited metabolic disorders such as phenylketonuria (PKU), where the body can't process the amino acid phenylalanine, and lysosomal storage disorders like Gaucher disease or Fabry disease, result from enzyme deficiencies, causing a buildup of substances within cells. Symptoms vary widely, ranging from fatigue, weight fluctuations, and abnormal growth patterns to neurological issues and organ damage. Diagnosis involves detailed medical history, physical exams, and often specialized testing like blood tests, genetic analysis, or imaging studies. Management typically involves dietary modifications, medications, enzyme replacement therapies, or in severe cases, organ transplantation. Early detection through newborn screening and advancements in genetic testing have improved prognosis and treatment options, emphasizing the importance of timely intervention in mitigating the effects of these complex disorders.
