What are Inherited Metabolic Diseases?
Metabolism refers to the mechanisms our body uses to break down foods and chemicals, and then build the numerous molecules we need for normal growth and function. There are thousands of steps in metabolism, each requiring its own enzyme. The majority of childhood inherited metabolic diseases are caused by defects of genes that code for enzymes that are necessary to accomplish each of the many steps in metabolism. An enzyme deficiency results in the accumulation of substances, which are toxic or interfere with the body's normal function, or deficiency of substances that are essential for normal function. Inherited metabolic diseases affect virtually all organs and lead to varied symptoms.