Metabolic Disorders

Our bodies get the energy they need from food. This process is called metabolism. Food is made up of proteins, sugars and fats. The body can use this fuel right away, or store the food as energy in your body. The most important areas for energy storage are your liver, muscles and body fat. Children with metabolic disorders are unable to properly store or use a specific type of energy (such as protein, sugar, or fat). 

Some metabolic diseases are passed from parents to their children. These conditions are called inborn errors of metabolism. When babies are born, they have a blood test to check for many of these metabolic diseases. This blood test is called a newborn screen. Children who have problems with their metabolisms can get very sick. If left untreated, pediatric metabolic disorders may be life threatening. Some of the more common metabolic disorders include maple syrup urine disease and urea cycle disorder. 

Many metabolic diseases can be controlled with diet or medicine prescribed at an early age.  These disorders are treated by specialists in the genetics center, and may also be seen by specialists in the liver disease clinic.