Sarcosinemia
Sarcosinemia
Sarcosinemia (pronounced sar-koh-sin-ee-mee-uh) is a rare metabolic disorder characterized by an excess of the amino acid sarcosine in the blood.
Etymology
The term "Sarcosinemia" is derived from the Greek word "sarkos" meaning flesh, and the Latin word "emia" meaning condition of the blood.
Definition
Sarcosinemia is a condition in which the body is unable to properly metabolize the amino acid sarcosine. This results in an excess of sarcosine in the blood, which can lead to a variety of health problems.
Symptoms
Symptoms of sarcosinemia can vary greatly from person to person. Some individuals may show no symptoms at all, while others may experience developmental delay, growth failure, and severe neurological symptoms.
Causes
Sarcosinemia is caused by a deficiency in the enzyme sarcosine dehydrogenase, which is responsible for breaking down sarcosine in the body. This deficiency can be due to a genetic mutation in the gene that produces this enzyme.
Diagnosis
Diagnosis of sarcosinemia is typically made through a blood test that measures the level of sarcosine in the blood. Genetic testing may also be used to confirm the diagnosis.
Treatment
There is currently no cure for sarcosinemia. Treatment typically involves managing the symptoms and may include dietary restrictions to limit the intake of sarcosine.
Related Terms
External links
- Medical encyclopedia article on Sarcosinemia
- Wikipedia's article - Sarcosinemia
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