Types and Symptoms of Metabolic Genetic Disease
Children with recurrent, unexplained illness or progressive deterioration in their physical or mental status are often referred for a metabolic genetic evaluation.
Some genetic screenings, such as phenylketonuria or PKU, are automatically done when a baby is born, through newborn screening, also known as the heel-prick test. Patients diagnosed with a metabolic disorder through newborn screening are evaluated, treated, and followed in our metabolic clinic.
At GGC, a metabolic genetic consultation goes beyond diagnosis. Our clinicians are dedicated to patient care and provide services including genetic counseling, genetic testing, dietary counseling and management, psychological evaluations, and ongoing treatment monitoring.
Symptoms that may alert a healthcare professional to the need for a metabolic genetics evaluation include:
During a metabolic consultation, a clinician will spend time asking and answering questions, taking a thorough family history, and providing a physical examination, if needed. They will discuss testing and treatment options and guide you through the testing process. You may also meet with a metabolic dietitian and/or a neuropsychologist during your visit.