Inborn errors of metabolism

Inborn Errors of Metabolism

Inborn errors of metabolism (pronunciation: in-born er-rors of me-tab-o-lism) are a group of rare genetic disorders in which the body cannot properly turn food into energy. The term "inborn error of metabolism" was coined by a British physician, Sir Archibald Garrod (Archibald Garrod), in the early 20th century.

Etymology

The term "inborn errors of metabolism" comes from the fact that these conditions are present from birth (inborn) and affect the body's metabolism. The word "metabolism" comes from the Greek word "metabole" which means change, referring to the chemical changes in the body that produce energy and sustain life.

Types of Inborn Errors of Metabolism

There are hundreds of different types of inborn errors of metabolism, and they are typically classified by the specific body system that is affected. Some of the most common types include:

Symptoms

The symptoms of inborn errors of metabolism can vary widely, depending on the specific disorder. However, common symptoms can include failure to thrive, developmental delay, seizures, and unusual body odor.

Diagnosis

Diagnosis of inborn errors of metabolism typically involves a combination of physical examination, medical history, and laboratory tests. Genetic testing can also be used to confirm a diagnosis.

Treatment

Treatment for inborn errors of metabolism depends on the specific disorder and its severity. Treatment options can include dietary restrictions, medications, and in some cases, organ transplantation.

Prognosis

The prognosis for individuals with inborn errors of metabolism varies widely, depending on the specific disorder and its severity. With early diagnosis and appropriate treatment, many individuals with these disorders can lead healthy lives.

External links

Medical encyclopedia article on Inborn errors of metabolism
Wikipedia's article - Inborn errors of metabolism

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Inborn errors of metabolism