Hypervalinemia

Hypervalinemia (pronounced as hi-per-va-li-ne-mia) is a rare metabolic disorder characterized by elevated levels of the amino acid valine in the blood.

Etymology

The term "Hypervalinemia" is derived from the Greek words "hyper" meaning over, "valine" referring to the amino acid, and "emia" meaning condition of the blood.

Definition

Hypervalinemia is a condition that occurs when there is an excess of the amino acid valine in the blood. This condition is usually benign and does not cause any symptoms or health problems. It is often discovered during newborn screening tests for metabolic disorders.

Causes

The exact cause of hypervalinemia is not known. It is thought to be due to a defect in the metabolic pathway that breaks down valine. This could be due to a genetic mutation in the genes responsible for the enzymes involved in this pathway.

Symptoms

Most individuals with hypervalinemia do not show any symptoms. In rare cases, symptoms such as developmental delay, seizures, and failure to thrive may occur.

Diagnosis

Hypervalinemia is usually diagnosed through newborn screening tests. These tests measure the levels of various amino acids in the blood. If the level of valine is higher than normal, a diagnosis of hypervalinemia may be made.

Treatment

There is no specific treatment for hypervalinemia as it is usually a benign condition. If symptoms do occur, treatment is aimed at managing these symptoms.

Related Terms

• Amino acid
• Metabolic disorder
• Valine
• Genetic mutation
• Enzyme

External links

• Medical encyclopedia article on Hypervalinemia
• Wikipedia's article - Hypervalinemia

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