Aminoaciduria in childhood

Abstract

Paper partition chromatography has been used extensively to study the aminoacid excretion in the urine of healthy children, of newborn infants and of patients suffering from eight different metabolic disorders. The purpose of this investigation was to discover the aminoacid pattern in the urine and the extent to which it is characteristic of each condition, and to establish the differences between the various aminoacid patterns. In order to gain some insight into the mechanism of the various forms of aminoaciduria a comparison was made between the aminoacid pattern of the plasma and that of the urine. In some cases microbiological assay has been used to establish the plasma level of certain aminoacids more exactly than was possible by paper chromatography. [From p92, Summary and conclusions] The main diseases investigated were: Lignac-Fanconi disease Cystine-lysinuria Phenylpyruvic oligophrenia Liver cirrhosis and hepatitis Steatorrhoea Galactosaemia Wilson's disease [From p4, Introduction