出典:Wiktionary
出典:Wikipedia
出典:『Wikipedia』 (2010/09/11 03:28 UTC 版)
Hypervalinemia, also called valinemia or valine transaminase deficiency, 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.