Inherited Metabolic Disorders

Inherited metabolic disorders (also known as inborn errors of metabolism) are a group of genetic conditions that affect the body’s metabolism, the process by which our body converts food into energy and essential molecules for growth and development. These disorders limit or prevent the body's ability to process specific nutrients or molecules, resulting in an abnormal accumulation or deficiency of metabolic products. These disorders are caused by inherited mutations in genes that encode enzymes, transporters or other proteins that are critical for metabolic pathways. Inherited metabolic disorders can affect any organ or tissue in the body and have a broad range of clinical symptoms, including developmental delay, intellectual disability, seizures, metabolic crises and organ disfunction or failure. Some inherited metabolic disorders can be managed with dietary changes, enzyme replacement therapy or other targeted therapies, depending on the specific metabolic defect. Others have no cure and can be life-threatening. There are hundreds of known inborn errors of metabolism. Some examples include phenylketonuria (PKU), maple syrup urine disease (MSUD), lysosomal storage disorders (LSDs) and glycogen storage diseases (GSDs).²³