Hypermethioninemia

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Hypermethioninemia (pronounced: hi-per-me-thio-ni-ne-mia) is a medical condition characterized by abnormally high levels of an amino acid called methionine in the blood.

Etymology

The term "Hypermethioninemia" is derived from the Greek words "hyper" meaning over, "methionine" which is an essential amino acid, and "emia" meaning presence in blood.

Causes

Hypermethioninemia can be caused by a variety of factors, including genetic disorders such as MAT I/III deficiency and Adenosine kinase deficiency, liver diseases, excessive dietary intake of methionine, and certain medications.

Symptoms

Symptoms of hypermethioninemia can vary widely, depending on the underlying cause. They may include developmental delay, intellectual disability, liver problems, and a distinctive odor of the breath and urine.

Diagnosis

Diagnosis of hypermethioninemia typically involves blood tests to measure the level of methionine and other related substances. Genetic testing may be performed to identify any underlying genetic disorders.

Treatment

Treatment for hypermethioninemia typically involves dietary restrictions to limit the intake of methionine. In some cases, medications may be used to manage symptoms or treat underlying conditions.

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