Hypervalinemia

Interrelationships of Leucine and Glutamate Metabolism in Cultured Astrocytes

“…The formation of either [''N]leucine or [15N]isoleucine was much greater than that of [ 15N]valine, which accords with the observation that valine is less tightly bound to branched-chain aminotransferase than is either leucine or isoleucine (Hall et al, 1993). A specific enzyme mediating the transamination of valine may exist in some systems, a notion that is supported by clinical reports of isolated hypervalinemia (Tada et al, 1967).…”

Clinical Biochemistry: Enzymatic Methods: Automation and Atomic Absorption Spectroscopy

“…The disease is characterized by high concentrations valine in the blood and clinically by mental retardation, growth defects, and other neurological abnormalities (59). Leukocytes of affected individuals show a decrease in valine transaminase activity (60).…”