Hypermethioninemia
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.
Related Terms
- Methionine: An essential amino acid that plays a crucial role in many bodily functions.
- Amino acid: Organic compounds that combine to form proteins.
- MAT I/III deficiency: A rare genetic disorder that can cause hypermethioninemia.
- Adenosine kinase deficiency: Another rare genetic disorder that can lead to hypermethioninemia.
External links
- Medical encyclopedia article on Hypermethioninemia
- Wikipedia's article - Hypermethioninemia
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