CYSTATHIONINURIA IN A WELL BABY POPULATION

Abstract

Summary Screening of 35 809 infants by one way chromatography revealed 15 cases of excessive cystathionine excretion. Evidence is presented to suggest that two of these are homozygous for primary cystathioninaemia. Homocystin‐uria was present transiently in one of these two infants. It is concluded that cystathionin‐uria is a benign disorder and appears to be much more common than previously recognised.