Inherited Metabolic Diseases

Inherited metabolic diseases, also known as hereditary metabolic disorders and inborn errors of metabolism, are rare genetic disorders that occur due to a missing or defective enzyme in the body. These disorders can affect individuals of any age, from newborns to adults. As an inherited metabolic disorders specialist, your role is to diagnose and treat patients suffering from these genetic conditions. You will work closely with genetic counselors to develop treatment plans and provide support to patients and their families. Additionally, you will be responsible for recognizing, assessing, and managing acute pediatric inherited metabolic emergencies. Your work will involve maintaining accurate records of research, methodology, procedures, and test results. You will also strive to enhance and improve treatment techniques for individuals with genetic diseases and disorders. Prescribing appropriate medication will be part of your responsibilities as well. General Responsibilities: 1. Coordinate with genetic counselors to prescribe treatment plans for patients with genetic disorders and conditions. 2. Recognize, assess, and manage acute pediatric inherited metabolic emergencies. 3. Diagnose patients with inherited metabolic diseases. 4. Maintain complete and accurate records of research, methodology, processes, procedures, and test results. 5. Strive to enhance and improve treatment techniques for individuals with genetic diseases and disorders. 6. Prescribe appropriate medication for patients.