CYSTATHIONINURIA

Abstract
Summary: During a survey by paper chromatography of amino acids in urine from patients in a mental deficiency hospital, one patient was found who was excreting an unusual ninhydrin reacting substance in large amounts. The substance was identified chromatographically as cystathionine, an amino acid which has not been previously found in human urine. The evidence suggests that the abnormal excretion of cystathionine was due to an inborn error of metabolism represented by a metabolic block at the point where cystathionine is normally cleaved to give cysteine and homoserine.