Idiopathic Hyperglycinemia; A Possibility of Heterozygosity in the Parents

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Abstract
Idiopathic hyperglycinemia, discovered by Childs et al is thought to be an inherited metabolic disorder, despite a lack of evidence that the disorder is genetically determined. Investigation was made on glycine metabolism in the parents of a patient with this disorder. The fasting level of glycine and ratio of glycine to serine in serum were found to be significantly higher in the parents than in controls. Glycine loading test (0.5 g/kg) indicated that the parents had to some extent a handicap of glycine utilization as compared with control individuals, suggesting that the parents are probably heterozygous for the disorder.

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