Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency

R J Torres1, S Puente2, A Menendez3

  • 1Foundation for Biomedical Research, La Paz University Hospital (FIBHULP), IdiPaz, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Spain.

Summary

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency diagnosis can be challenging. Enzyme activity in intact erythrocytes, not just hemolysates, is crucial for identifying HPRT deficiency and Lesch-Nyhan variant.

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