Hyperglycinaemia and Hyperglycinuria in a Newborn Infant

Abstract

A case of hyperglycinemia and hyperglycinuria is reported; a newborn male infant who died 4 days after birth with extreme flaccidity and severe respiratory acidosis. Amino acid analysis of the urine revealed a much increased glycine excretion. Plasma concentrations of most amino acids were increased to 2-3 times those of control values, with the exception of glycine which was 10-20 times the control value. Amino acid analysis of plasma and urine of the parents of the patient showed normal values. Three other cases of hyperglycinemia are shortly reviewed. The family history of our patient supports the hereditary character of this disease.