Our metabolic laboratory provides diagnostic testing for inborn errors of metabolism (a class of genetic disorders). These disorders are caused by a defective enzyme involved in the breakdown of the food we eat. This leads to a build-up of abnormal chemicals in the blood or urine, which can be toxic. This can affect the normal growth and development.
We also provide testing to monitor individuals who have already been diagnosed with a metabolic condition.
Testing is designed to identify patients (usually babies or infants) with metabolic disorders (also known as inborn errors of metabolism).
Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Enzymes in digestive system break the food down into compounds such as sugars and acids. These act as fuel for your body.
A metabolic disorder usually occurs when a single enzyme involved in the breakdown of food is either not produced or is not working properly. This leads to a build-up of chemicals in the blood or urine.
Metabolic testing looks at a number of different metabolites (chemicals): amino acids, organic acids, acyl carnitines and glycosaminoglycans. Abnormal levels of any of these can indicate a metabolic disorder.
Testing is usually arranged by a specialist doctor when an individual is suspected of having a metabolic disorder. Often, this occurs in the newborn period, when babies are identified via newborn screening.
Testing can be performed on blood, urine or cerebrospinal fluid, depending on what chemical is being investigated.
What are the symptoms of a metabolic disorder?
The symptoms of genetic metabolic disorders vary widely. Some symptoms include lethargy, vomiting, failure to gain weight and seizures.
For many metabolic disorders, symptoms typically appear within a few weeks after birth, however some may take years for symptoms to develop. The symptoms may come on suddenly or progress slowly.
What treatments are available for a metabolic disorder?
Treatment for genetic metabolic disorders aim to reduce the level of the metabolite in the body. This can be done through diet, by limiting the intake of any food that can't be metabolised properly. Enzyme replacement therapy can also be used, as well as methods to remove the metabolic compound that has built up in the system.
For some metabolic disorders there are no effective treatments.