A metabolic disorder is a medical condition characterized by problems with an organism's metabolism. Since a healthy, functioning metabolism is crucial for life, metabolic disorders are treated very seriously. A broad range of conditions including Tay-Sachs disease and Wilson's disease are classified as metabolic disorders. Diagnosing a metabolic disorder can be difficult, as a wide variety of problems create similar symptoms; many patients end up enduring a battery of tests and seeing multiple experts before the root cause of their problems is identified.
The process of converting food into energy is known as metabolism. Metabolic functions also govern the transport, storage, and distribution of energy throughout the body. A myriad of metabolic functions are constantly occurring in the body of any living organism, as the cells work together to keep their parent organism healthy. A major part of a healthy metabolism is the generation of enzymes which break food down into energy and handle the transport of that energy. Most metabolic disorders are related to enzyme malfunctions.
In an enzyme fails to perform properly or the body does not produce enough of it, the results can be very serious. Some compounds may build up to toxic levels in the body, because they are not being properly metabolized. In other cases, the host organism may fail to get proper nutrition, even if it is eating a healthy, balanced diet. A metabolic disorder can cause a wide range of symptoms including muscle weakness, neurological problems, intestinal irregularities, and cardiovascular problems, among many others.
Typically, a metabolic disorder is inherited. Parents may not be aware that they carry dangerous genes until their children are born. In other instances, diseases, exposure to toxins, diet, and drug use may cause metabolic disorders. Since the symptoms can be vague, diagnosis is complicated, especially in regions where people do not have access to excellent health care. A physician who is not experienced with metabolic disorders may try a number of other avenues of treatment before realizing that the condition is metabolic in origin.
The treatments for metabolic disorders vary, depending on what type of condition is involved and how severe the symptoms are. Once the problem has been identified, a doctor may prescribe drugs or therapy to help the body regulate itself. The patient may also be asked to participate in self-care through lifestyle changes such as an alteration in diet. Ideally, treatment will stabilize the metabolic disorder, allowing the patient to live a healthy, functional life.