2-Hydroxyglutaric aciduria
2-Hydroxyglutaric aciduria
2-Hydroxyglutaric aciduria (pronounced as two-hy-drox-ee-gloo-tar-ic acid-u-ria) is a rare metabolic disorder characterized by the buildup of a substance called 2-hydroxyglutaric acid in the body's cells and fluids. This condition is categorized under the broader group of organic acidurias.
Etymology
The term "2-Hydroxyglutaric aciduria" is derived from the name of the substance that accumulates in the body, 2-hydroxyglutaric acid, and the suffix "-uria," which is used in medical terminology to denote a condition involving the presence of a particular substance in the urine.
Symptoms
Symptoms of 2-Hydroxyglutaric aciduria can vary widely among affected individuals. They may include developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the brain's white matter. Some individuals may also have distinctive facial features, such as a prominent forehead, widely spaced eyes, and a thin upper lip.
Diagnosis
Diagnosis of 2-Hydroxyglutaric aciduria typically involves biochemical testing to detect elevated levels of 2-hydroxyglutaric acid in the urine. Genetic testing may also be performed to identify mutations in the associated genes, such as the D2HGDH and L2HGDH genes.
Treatment
Treatment for 2-Hydroxyglutaric aciduria is primarily supportive and may include physical therapy, medication to control seizures, and special educational services. There is currently no cure for this condition.
See also
External links
- Medical encyclopedia article on 2-Hydroxyglutaric aciduria
- Wikipedia's article - 2-Hydroxyglutaric aciduria
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