Hyper-β-Alaninemia Associated with β-Aminoaciduria and γ-Aminobutyricaciduria, Somnolence and Seizures

Abstract

A GREAT number of abnormal aminoacidurias have now been described,¹ and investigation of such patients has provided better insight into normal human biology. We believe that the following report introduces three new problems of considerable interest:The presence of continuous hyper-β-alaninemia in a patient with somnolence and seizures may illustrate the pharmacologic effects of β-alanine on nervous tissue²; it also suggests that the tissue free pool of this compound is probably more actively regulated than previously suspected.Three β-amino compounds¶ — β-alanine, βAIB and taurine — were present in excessive amounts in urine whereas only β-alanine was elevated in . . .