Hypervalinemia

Hypervalinemia is a rare metabolic disorder characterized by elevated levels of the amino acid valine in the blood and urine. This condition is generally considered benign, as individuals with hypervalinemia typically do not have any symptoms or health problems associated with the condition. Hypervalinemia is inherited in an autosomal recessive manner.

Causes

Hypervalinemia is caused by mutations in the BCAT2 gene. This gene provides instructions for making an enzyme called branched-chain amino acid transaminase 2. This enzyme is involved in the initial steps of the breakdown (metabolism) of the amino acids leucine, isoleucine, and valine. Mutations in the BCAT2 gene reduce the activity of this enzyme, which disrupts the normal breakdown of these amino acids and leads to their accumulation in the body.

Symptoms

Most individuals with hypervalinemia do not have any symptoms or health problems associated with the condition. However, some individuals may have mild intellectual disability or developmental delay.

Diagnosis

Hypervalinemia is typically diagnosed through newborn screening or during an evaluation for unexplained developmental delay or intellectual disability. The diagnosis is confirmed by finding elevated levels of valine in the blood and urine.

Treatment

There is currently no specific treatment for hypervalinemia. Management of the condition typically involves regular monitoring of amino acid levels and nutritional counseling to ensure a balanced intake of protein.

Prognosis

The prognosis for individuals with hypervalinemia is generally good. Most individuals with this condition do not have any symptoms or health problems associated with the condition, and those who do typically have mild symptoms.

See also

• Amino acid metabolism disorder
• BCAT2
• Valine

References

Hypervalinemia Resources
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