Inherited Metabolic Disorders

Inherited metabolic disorders, also known as inborn errors of metabolism, are a group of medical conditions that result from genetic changes that affect how the body processes food into energy. These genetic defects, which can involve a single gene or multiple genes, can cause an abnormal buildup of substances, such as toxins and fatty acids, within cells and tissues, leading to a variety of symptoms that typically begin in infancy or childhood, and can potentially be life-threatening. Early diagnosis and prompt treatment of inherited metabolic disorders can help improve the quality of life of those affected, and in some cases, may even prevent life-threatening complications. In addition, clinical testing for inherited metabolic disorders is increasingly being performed to identify carriers of genetic diseases who may be at risk of passing the condition down to their offspring.