Inherited Disorders of Sugar Metabolism (Galactosemia or Glycogen Storage Disease)
Galactosemia is an inherited disorder that affects the way the body metabolizes sugar. Individuals with galactosemia cannot convert galactose to glucose, resulting in a build-up of galactose in the blood. If untreated, galactosemia can lead to serious health problems such as cataracts, liver damage, and mental retardation. Early diagnosis and treatment are essential for preventing these complications. Treatment involves following a strict diet that eliminates sugar from the diet. In some cases, additional medical interventions may be necessary.
Glycogen storage disease (GSD) is caused by an abnormality in the body’s ability to store glycogen. Glycogen is a type of sugar stored in the liver and used for energy. People with GSD do not have enough of the enzyme that breaks down glycogen, so it builds up in their liver. Over time, this can lead to liver cirrhosis. GSD can be inherited, and several different types of the disorder exist. Treatment typically involves special diets and medications to help control symptoms and prevent complications. In some cases, a liver transplant may be necessary.
