PEDIATRICS Vol. 39 No. 6 June 1967, pp. 813-817
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HYPERVALINEMIA

A Defect in Valine Transamination

Joseph Dancis 1, Joel Hutzler 1, Keiya Tada 1, Yoshiro Wada 1, Toshio Morikawa 1, and Tsuneo Arakawa 1

1 The Departments of Pediatrics, New York University School of Medicine, and the University of Tohoku School of Medicine

The metabolism of the peripheral leucocyte has been studied in a child presenting with mental retardation and hypervalinemia. A defect in the transamination of valine was demonstrated. Evidence is presented that the transamination of value is dependent on an enzyme that is specific for valine. Transamination of valine is demonstrable in placenta, suggesting the possibility that the diagnosis may be made before birth.

Submitted on September 23, 1966
Accepted on November 29, 1966




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