Congenital Hyperglycinemia; Demonstration of a Minor Metabolic Defect in the Parents

Abstract

Oral glycine loading test to the parents of a patient with congenital hyperglycinemia revealed that the elevation of glycine was more remarkable and that of serine less remarkable. It is, therefore, suggested that the parents have a minor block in the conversion of glycine to serine and that they are heterozygous for the disorder.