A metabolic disorder is a medical condition characterized by problems with an organism's metabolism. Since a healthy and functional metabolism is crucial to life, metabolic disorders are treated very seriously. A wide 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 going on in the body of any living organism, as cells work together to keep their parent organism healthy. An important part of a healthy metabolism is the generation of enzymes that break down food into energy and manage the transport of that energy. Most metabolic disorders are related to the malfunction of enzymes.
If an enzyme is not working properly or the body is not producing enough of it, the results can be very serious. Some compounds can build up to toxic levels in the body because they are not metabolized properly. In other cases, the host organism may not be getting adequate 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.
Usually, a metabolic disorder is inherited. Parents may not be aware that they carry dangerous genes until their children are born. In other cases, disease, exposure to toxins, diet, and drug use can cause metabolic disorders. Since symptoms can be vague, diagnosis is difficult, especially in regions where people do not have access to excellent medical care. A physician who is inexperienced with metabolic disorders may try other avenues of treatment before realizing that the condition is metabolic in origin.
Treatments for metabolic disorders vary, depending on the type of condition involved and the severity of symptoms. Once the problem has been identified, a doctor may prescribe medication 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, the treatment will stabilize the metabolic disorder, allowing the patient to live a healthy and functional life.