Congenital metabolic disorders are pathologic presentations as a result of defects which occur due to the synthesis or catabolism of proteins, carbohydrates and fatty acids. These congenital metabolic disorders frequently due to autosomal recessive transgression may pose serious metabolic problems and are generally seen in early adolescence. As a pathologic condition, metabolic disorders present themselves as a result of incorrect genetic information in the development or functioning of the enzyme whose products are lacking or are insufficient. Owing to the defective enzyme, the necessary end products cannot be produced and primary materials and/or metabolites, developed by alternative means, begin to collect and create a toxic effect on the body. In some patients, materials collected will migrate through to other tissues and damage distant organs.
One of the great advances in preventive medicine has been newborn screening for several diseases. Newborn screening is a program of screening in infants shortly after birth for a list of conditions that are treatable, but not clinically evident in the newborn period. By starting treatment early, serious problems like illness, intellectual disabilities, or death can often be prevented.