Hypoxanthine-guanine phosphoribosyltransferase deficiency

Synonyms: Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency

Summary

The features of Lesch-Nyhan syndrome (LNS) are intellectual disability, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips. Megaloblastic anemia has been found in some patients (summary by van der Zee et al., 1968, Madeo et al., 2019). [from OMIM]

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Clinical tests (1 available)

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