X-linked hypoxanthine-guanine phosphoribosyltransferase deficiency without neurological disorders. a report of a family.

Abstract	A patient is reported with X-linked hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. He had gout but no neurological symptoms. The patient had negligible HGPRT activity as determined by thin layer chromatography and liquid scintillation counting. Autoradiography of fibroblast cultures revealed no uptake of -3H-hypoxanthine. His mother and two sisters were shown to be heterozygotes.
Authors	T Toyo-Oka, F Hanoka, I Akaoka, M A Yamada
Journal	Clinical genetics (Clin Genet) Vol. 7 Issue 3 Pg. 181-5 (Mar 1975) ISSN: 0009-9163 [Print] Denmark
PMID	1139786 (Publication Type: Journal Article)
Chemical References	Hypoxanthines Hypoxanthine Phosphoribosyltransferase
Topics	Adolescent Child Fibroblasts (metabolism) Gout (genetics) Humans Hypoxanthine Phosphoribosyltransferase Hypoxanthines (metabolism) Male Pedigree Sex Chromosomes

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