| Unusual presentation of Kelley-Seegmiller syndrome. | |
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MedLine Citation:
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PMID: 18600521 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Female carriers of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency have somatic cell mosaicism of HPRT activity and are healthy. We report a 50-year-old woman without gout or nephrolithiasis. She was never on allopurinol. Normal serum uric acid concentrations, increased plasma hypoxanthine, and xanthine were found. HPRT activity in erythrocytes was surprisingly low: at 8.6 nmol h(-1) mg (-1) haemoglobin. Mutation analysis revealed a heterozygous HPRT gene mutation, c.215A > G (p.Tyr72Cys). Assessment of X-inactivation ratio has shown that > 75% of the active X-chromosome bears the mutant allele and could explain these unusual, previously undescribed findings. |
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Authors:
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I Sebesta; B Stiburková; L Dvorakova; M Hrebicek; J Minks; L Stolnaja; Z Vernerova; I Rychlik |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Nucleosides, nucleotides & nucleic acids Volume: 27 ISSN: 1532-2335 ISO Abbreviation: Nucleosides Nucleotides Nucleic Acids Publication Date: 2008 Jun |
Date Detail:
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Created Date: 2008-07-07 Completed Date: 2008-10-30 Revised Date: 2013-04-09 |
Medline Journal Info:
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Nlm Unique ID: 100892832 Medline TA: Nucleosides Nucleotides Nucleic Acids Country: United States |
Other Details:
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Languages: eng Pagination: 648-55 Citation Subset: IM |
Affiliation:
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Institute of Inherited Metabolic Disorders, Charles University, Prague, Czech Republic. isebes@lf1.cuni.cz |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Alleles Female Heterozygote Humans Hypoxanthine Phosphoribosyltransferase / deficiency*, genetics, metabolism Lesch-Nyhan Syndrome / enzymology*, genetics*, metabolism, pathology Male Middle Aged Mutation Pedigree Purines / blood Syndrome X Chromosome Inactivation |
| Chemical | |
Reg. No./Substance:
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0/Purines; EC 2.4.2.8/Hypoxanthine Phosphoribosyltransferase; W60KTZ3IZY/purine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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