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.
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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)
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Chemical References |
- Hypoxanthines
- Hypoxanthine Phosphoribosyltransferase
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Topics |
- Adolescent
- Child
- Fibroblasts
(metabolism)
- Gout
(genetics)
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Hypoxanthines
(metabolism)
- Male
- Pedigree
- Sex Chromosomes
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