What is valinemia?
A rare metabolic disorder caused by the deficiency of the enzyme valine transaminase (needed for the breakdown of valine) characterised by elevated levels of the amino acid valine in the blood and urine is known as valinemia. However, varying degrees of valinemia can be seen if there is a deficiency of an enzyme at any of the seven stages of valine breakdown.
What are its main signs and symptoms?
As valinemia is mainly seen at birth, the infantile symptoms include:
- Lack of appetite
- Excessive drowsiness
- Low muscle tone
- Frequent vomiting
- Protein intolerance
- Hyperactivity
- Hyperkinesia
- Muscular weakness
- Delayed mental and physical development
- Metabolic acidosis
- Failure to thrive or faltering weight
- Coma
- Laboratory findings could be raised levels of valine in the blood and urine
Sometimes this condition could be fatal.
What are the main causes?
It is an inherited condition, although the gene responsible for the condition is not yet known. Valinemia is caused mainly due to an excessive amount of valine, which is caused due to the deficiency of the enzyme required for its breakdown. This is thought to be caused by a genetic problem due to an unknown gene and is considered to be an autosomal recessive genetic disorder (when an individual inherits the same abnormal gene from each parent for the same trait, the disease is seen). When one parent is recessive and other dominant, the individual is termed as a carrier.
How is it diagnosed?
Laboratory identification and measurement of metabolic products that are found in the blood and urine are required for the diagnosis of valinemia and are done with the help of sophisticated chromatographic equipment, which helps to identify these metabolites.
Management of valinemia includes:
Although the treatment modalities available for valinemia are very limited, the main management of the disease includes providing an infant with a diet that is low in valine. This will help to:
- Lower the concentration of valine in the blood to normal levels
- Improve symptoms of the condition.