Clinical and Biochemical Correlates of A New HPRT Mutation
In the biochemical analysis of patients with Lesch-Nyhan disease the activity of HPRT found in cell lysates does not always correlate with HPRT activity in the intact cell (1–3). Neither analysis consistently predicts the degree of neurologic impairment in the patient (4,5).
KeywordsUric Acid Cerebral Palsy Intact Cell Serum Uric Acid Erythrocyte Lysate
Unable to display preview. Download preview PDF.
- 3.Emerson, B. T., and L. Thompson. The spectrum of hypoxanthineguanine phosphoribosyltransferase deficiency. Quart. J. Med. 42: 423–440, 1973.Google Scholar
- 5.Page, T., B. Bakay, E. Nissinen and W. Nyhan. Hypoxanthine guanine phosphoribosyltransferase variants: Correlation of clinical phenotype with enzyme activity. J. Inherit. Metab. Dis. 4: 203–206, 1981.Google Scholar