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