Affiliation:
1. Joseph P. Kennedy, Jr., Laboratories, Department of Pediatrics, University of Wisconsin Medical Center, and the Central Wisconssin Colony and Training School, Madison, Wisconsin
Abstract
A 5½-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.
Publisher
American Academy of Pediatrics (AAP)
Subject
Pediatrics, Perinatology and Child Health
Cited by
13 articles.
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