PEDIATRICS Vol. 79 No. 5 May 1987, pp. 713-717
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Syndrome of Mild Mental Retardation, Spastic Gait, and Skeletal Malformations in a Family With Partial Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase

Theodore Page PhD1, William L. Nyhan MD, PhD1, and Vincente Morena de Vega MD1

1 From the Department of Pediatrics, University of California San Diego, La Jolla; and the Clinica Universitaria de Patologia, Universidad de Salamanca, Salamanca Spain

A syndrome has been observed in a kindred with deficient activity of hypoxanthine-guanine phosphoribosyltransferase in which affected hemizygotes have had mild mental retardation, a spastic gait, pyramidal tract signs, shortness of stature, proximally placed thumbs and clinodactyly of the fifth fingers. Activity of the enzyme was virtually zero in lysates of erythrocytes or hair roots, but in intact fibroblasts, the level of activity was 7.5% of normal, placing this variant in a group distinct from any previously studied. Kinetic studies revealed a Michaelis constant for hypoxanthine that was also different from other enzymes studied. These observations indicate the presence in this kindred of a distinct variant of hypoxanthine-guanine phosphoribosyltransferase.

Key Words: syndrome • spastic gait • skeletal abnormality • hypoxanthine-guanine phosphoribosyltransferase deficiency • altered Michaelis constant

Submitted on February 15, 1985
Accepted on June 17, 1986