engleski

Acute renal failure in an infant with partial deficiency of hypoxanthine phosporybosiltransferase caused by novel G140S mutation

HPRT deficiency present with a variety of symptoms depending of the residual enzyme activity. Complete or nearla complete deficiency causes Lesch-Nyhan syndrome characterized by mental retardation, slf mutilation, choreoathetosis , other neurological symptoms and complications of hyperuricemmia. gene analysis revealed a novel mmissense mutation G140S in exon 6 of HPRT gene. It is based substitution GGC AGC at position 418, creating a new restriction site for Bfal

hypoxanthine phosphorybosiltransferase deficency

nije evidentirano