Hypermethioninemia
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Hypermethioninemia | |
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Synonyms | |
Pronounce | |
Specialty | Medical genetics |
Symptoms | Elevated levels of methionine in the blood |
Complications | Liver disease, neurological symptoms |
Onset | |
Duration | |
Types | |
Causes | Genetic mutation, liver dysfunction |
Risks | |
Diagnosis | Blood test for methionine levels |
Differential diagnosis | |
Prevention | |
Treatment | Dietary restriction of methionine, Vitamin B6 supplementation |
Medication | |
Prognosis | Varies depending on cause and treatment |
Frequency | Rare |
Deaths |
Hypermethioninemia is a medical condition characterized by abnormally high levels of an amino acid called methionine in the blood. This condition can occur due to genetic disorders, liver diseases, or excessive dietary intake of methionine.
Causes
Hypermethioninemia can be caused by several factors:
- Genetic disorders: Certain genetic disorders can lead to hypermethioninemia. These include MAT I/III deficiency, MAT I/III deficiency, and adenosylhomocysteinase deficiency.
- Liver diseases: Liver diseases such as cirrhosis and hepatitis can also cause hypermethioninemia.
- Diet: Consuming a diet high in methionine can lead to this condition.
Symptoms
The symptoms of hypermethioninemia can vary widely, depending on the underlying cause. They may include:
Diagnosis
Hypermethioninemia is typically diagnosed through a blood test that measures the level of methionine in the blood. Genetic testing may also be performed to identify any underlying genetic disorders.
Treatment
Treatment for hypermethioninemia typically involves addressing the underlying cause. This may involve dietary changes, medication, or in some cases, liver transplantation.
See also
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Contributors: Prab R. Tumpati, MD