Metabolic Disorders

Metabolic disorders are problems with producing, absorbing, breaking down, or storing specific substances in the body, including sugars, fats, proteins, vitamins, or other substances. They usually happen when a child lacks a specific enzyme, often because of a genetic mutation.

The treatment for metabolic disorders depends on the underlying cause. Sometimes the metabolic disorder can be corrected with a special diet or supplements. In some cases it is not possible to correct the metabolic disorder completely, but the symptoms can be managed.

Phenylketonuria (PKU)