PEDIATRICS Vol. 39 No. 6 June 1967, pp. 818-828
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HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA

Metabolic Studies on the Nature of the Defect

Juan Rodriguez Soriano M.D.1, Leonard S. Taitz M.D.1, Laurence Finberg M.D.1, and Chester M. Edelmann Jr. M.D.1

1 The Division of Pediatrics, Montefiore Hospital and Medical Center, and the Department of Pediatrics and the Rose F. Kennedy Center for Research in Mental Retardation and Human Development of the Albert Einstein College of Medicine, New York

Metabolic investigations are reported in a patient with the clinical and biochemical features of "idiopathic hyperglycinemia." During ketoacidosis elevated concentrations in serum of numerous amino acids were noted, especially leucine, isoleucine, valine, glycine, and lysine. Hyperammonemia was found in association with ketoacidosis.

Clinical and biochemical amelioration was induced by restriction of protein intake to 1 gm/kg or less. Although exacerbation was produced by increasing the protein intake to 1.5 gm/kg, the patient was able to tolerate as much as 3.0 gm/kg of an amino acid mixture in which leucine, isoleucine, valine, methionine, and threonine were absent.

It is postulated that this disease, in contrast to hyperglycinemia caused by a specific disorder in glycine metabolism, represents a generalized defect in utilization of amino acids resulting in excessive deamination of certain amino acids in the muscle, with consequent hyperammonemia and ketoacidosis. The nature of the defect in amino acid metabolism is unknown.

Submitted on November 9, 1966
Accepted on January 3, 1967


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