Hypervalinemia



Hypervalinemia (occasionally called valinemia) is a rare autosomal recessive metabolic disorder in which urinary and serum levels of the branched-chain amino acid valine are elevated, without related elevation of the branched-chain amino acids leucine and isoleucine.

It is caused by a deficiency of the enzyme valine transaminase.

Presenting in infancy, symptoms include lack of appetite, vomiting, dehydration, hypotonia and failure to thrive.