Metabolic genetic diseases are a rare group of disorders that interrupt the normal function of the body’s metabolism. Some of these disorders are often referred to as inborn errors of metabolism.
The Greenwood Genetic Center is a non-profit organization serving the residents of South Carolina. The genetic clinicians and laboratory scientists involved in our metabolic genetic clinic provide services for patients and family members who have been affected by a metabolic genetic disease.
What is Metabolic Genetic Disease?
Metabolic diseases are genetic conditions that affect the way food and chemicals are broken down in the body. When an enzyme or protein is either missing from the body or does not function normally, a disorder or defect can occur. Inherited metabolic disorders affect both children and adults. Thousands of inherited metabolic diseases exist, and most are extremely rare.
Metabolic genetic disease should not be confused with metabolic genetic syndrome. The term “metabolic syndrome” is used to describe a cluster of risk factors that make a person more vulnerable to diseases such as stroke, diabetes and heart disease.
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 are automatically provided when a child is born, through newborn screening, also known as the heel-prick test. Phenylketonuria or PKU is one example. Patients diagnosed with a metabolic disease through newborn screening are evaluated and followed in our metabolic clinic.
A metabolic genetic consultation at GGC 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:
- Intellectual disability
- Developmental delays
- Decreased motor skills
- Regression of development
- Lack of muscle control
- Growth issues/Failure to thrive
Children and newborns are not the only ones at risk for metabolic genetic disease. Some disorders can present in later childhood or even adulthood. For example, mitochondrial disorders are caused by mutations in the mitochodria, the structures within the cells that metabolize the body’s energy, or by mutations that directly impact the mitochondria. Specific mitochondrial diseases include myoclonus epilepsy, Kearns-Sayre syndrome and mitochondrial encephalomyopathy.
What to Expect at the GGC Metabolic Genetics Clinic
During the consultation, a clinician will spend time asking and answering questions, taking a thorough family history and providing a physical examination, if needed. The clinician will discuss testing options and guide you through the testing process. You may also meet with a metabolic dietitian and/or a neuropsychologist during your visit. For more information about the Greenwood Genetic Center’s metabolic genetic clinic, contact a location near you.