PEDIATRICS Vol. 36 No. 6 December 1965, pp. 882-891
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A NEW TYPE OF IDIOPATHIC HYPERGLYCINEMIA WITH HYPO-OXALURIA

Theo Gerritsen D.Sc.1, Elizabeth Kaveggia M.D.1, and Harry A. Waisman Ph.D., M.D.1

1 Joseph P. Kennedy, Jr., Laboratories, Department of Pediatrics, University of Wisconsin Medical Center, and the Central Wisconssin Colony and Training School, Madison, Wisconsin

A 5frac12-year-old male is described, with severe mental retardation, failure to thrive, inability to make adequate muscular movements, seizures, and spasticity. Laboratory studies revealed hyperglycinuria and hyperglycinemia, but a much reduced excretion of oxalic acid in the urine. It seems likely that this represents an inborn enzymatic defect, probably of glycine oxidase.

Submitted on February 24, 1965
Accepted on May 31, 1965