Idiopathic Hypervalinemia: Valine and Alpha Keto-acids in Blood Following an Oral Dose of Valine

Abstract

Abnormally high and delayed clearance curves of serum valine with the absence of an accumulation of alpha keto-acids in blood following an oral dose of valine were demonstrated in idiopathic hypervalinemia. Normal clearance curves were obtained in the case of oral loading with leucine, isoleucine or methionine. These findings lead us to speculate a possible block in the transamination reaction of valine in this disorder.