Metabolic disorders affect an organism’s metabolism, which can cause a range of symptoms and be difficult to diagnose. Enzyme dysfunction is often the cause, and treatments vary depending on the condition and severity.
A metabolic disorder is a medical condition characterized by problems with an organism’s metabolism. Since a healthy and functioning metabolism is essential for 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 series of tests and consulting with 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 regulate 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 cells work together to keep the parent organism healthy. An important part of a healthy metabolism is the generation of enzymes that break down food into energy and manage the transportation of that energy. Most metabolic disorders are related to enzyme dysfunction.
In an enzyme that doesn’t work properly or the body doesn’t make enough of it, the results can be very serious. Some compounds can build up to toxic levels in the body because they are not properly metabolized. In other cases, the host organism may not get proper nutrition, even if it eats a healthy and balanced diet. A metabolic disorder can cause a wide range of symptoms including muscle weakness, neurological problems, bowel 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 cases, disease, exposure to toxins, diet, and drug use can cause metabolic disturbances. Because symptoms can be vague, diagnosis is complicated, especially in regions where people lack access to excellent health care. A physician who is inexperienced with metabolic disorders may try a number of 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 the symptoms. Once the problem is identified, a doctor can prescribe medications or therapies to help the body adjust. The patient may also be asked to participate in self-care through lifestyle changes such as altering diet. Ideally, treatment will stabilize the metabolic disorder, enabling the patient to lead a healthy and functional life.
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