Congenital Hyperglycinemia; Demonstration of a Minor Metabolic Defect in the Parents
- 1 January 1965
- journal article
- research article
- Published by Tohoku University Medical Press in The Tohoku Journal of Experimental Medicine
- Vol. 85 (2) , 105-107
- https://doi.org/10.1620/tjem.85.105
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.Keywords
This publication has 2 references indexed in Scilit:
- Idiopathic Hyperglycinemia; A Possibility of Heterozygosity in the ParentsThe Tohoku Journal of Experimental Medicine, 1964
- Idiopathic Hyperglycinemia (The First Case in Japan)The Tohoku Journal of Experimental Medicine, 1963