An inborn error of metabolism with the urinary excretion of α-hydroxy-butyric acid and phenylpyruvic acid

Abstract

A child is described in whom a syndrome of mental deficiency and recurrent episodes of oedema were associated with the urinary excretion of α-hydroxy-butyric acid and phenylpyruvic acid. The presence of a-hydroxy-butyric acid gave rise to an unusual smell. Phenylacetic acid, phenylalanine, tyrosine and methionine were also present in excess in the urine. Some possible modes of formation of the α-hydroxy-butyric acid are discussed.