Definition

A very rare metabolic disorder, Valinemia is a deficiency of the enzyme valine transminase resulting in increased blood and urine levels of valine, an amino acid.

Diagnosis

Among the symptoms of Valinemia are vomiting, hypotonia, growth retardation, failure to thrive, and poor feeding.

Treatment



Symptoms

The disorder is caused by a deficiency of the enzyme valine transminase. Said enzyme is needed in breaking down valine. The breakdown of valine has at least seven stages and a deficiency of the appropriate enzyme at any stage can cause a disorder of varying rarirty and severity.

Causes