Hypoxanthine-Guanine Phosphoribosyl Transferase (HGPRT) Deficiency in a Girl
Lesch-Nyhan disease is an X-linked recessive disorder characterized by hyperuricemia, physical and mental retardation, choreoathetosis, and compulsive self-mutilation. The disease is associated with absence of activity of an enzyme involved in purine metabolism, namely hypoxanthine guanine phosphoribosyl transferase (HGPRT), and is believed to affect male only. We present here, however, an unusual case of a girl with the Lesch-Nyhan syndrome, whose mother is not heterozygous for a deficiency of the enzyme.
KeywordsPhosphoribosyl Transferase Hypoxanthine Phosphoribosyl Transferase HGPRT Activity APRT Activity Athetoid Movement
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