Valinemia

Urinary and serum valine were elevated, without elevation of leucine and isoleucine, in a child with vomiting, failure to thrive, and drowsiness (Wada et al., 1963). The parents, who were not known to be related, showed abnormally large amounts of valine in the urine. The deficient enzyme is valine transaminase. Observation of this condition and sweaty feet disease indicates that different enzymes are involved in the metabolism of valine, leucine, and isoleucine. Dancis et al. (1967) presented evidence that the transamination of valine is dependent on an enzyme specific for valine. They showed further that transamination of valine is demonstrable in the normal placenta. It might be possible to make a prenatal diagnosis of valinemia by needle biopsy of the placenta, in instances of an affected previously born sib.