What is Inborn Metabolism Disorder?

An inborn metabolism disorder is a defect in the way the body metabolizes certain substances. These disorders are normally genetic and usually involve a malfunction of certain cells which are responsible for developing specific digestive or other enzymes to break down and use various things found in common foods. For instance, some individuals lack the necessary enzymes to process gluten, leading to Celiac disease.

Those who have an inborn metabolism disorder can suffer from severe complications if treatment is not started right away. Most disorders are present at birth, and can be detected in newborn screenings. Infants are usually tested within a few days of birth for the various known metabolic disorders and are put on specialized diets or given enzyme injections if they are discovered to have an inborn metabolism disorder.

There are hundreds of metabolic disorders which may affect newborns, and they are broken down into various categories. Most patients with an inborn metabolism disorder have trouble breaking down amino acids, carbohydrates, organic acids, or they have issues with lysomal storage. Additional variations of each category also exist, and conditions which do not fit into any of these categories exist as well.

It is estimated that 70 in 100,000 people are born with some type of metabolism disorder. Without treatment, many of these individuals would die or suffer from severe problems like mental retardation. Most are detected early thanks to newborn testing, but not all disorders are tested for in all areas. Experts theorize that up to 5% of sudden infant death cases are actually undetected metabolic disorders. Parents can ensure that all available testing is done by making prior arrangements with a laboratory that performs newborn screens.

Treatments are available for children with a metabolism disorder, and these children are generally able to live normally or almost normally. Special diets are often needed to help them avoid the substances which cannot be broken down by their bodies. Sometimes enzymes can be given to allow them to break things down more effectively. Careful monitoring of food intake and the types of food given must be done throughout one’s life to avoid health issues. Sometimes gene or organ transplantation can be done to cure the disorder.