Unusual presentation of Kelley-Seegmiller syndrome
Language English Country United States Media print
Document type Case Reports, Journal Article
PubMed
18600521
DOI
10.1080/15257770802143863
PII: 794711424
Knihovny.cz E-resources
- MeSH
- Alleles MeSH
- Adult MeSH
- Heterozygote MeSH
- Hypoxanthine Phosphoribosyltransferase deficiency genetics metabolism MeSH
- X Chromosome Inactivation MeSH
- Lesch-Nyhan Syndrome enzymology genetics metabolism pathology MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation MeSH
- Purines blood MeSH
- Pedigree MeSH
- Syndrome MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Names of Substances
- Hypoxanthine Phosphoribosyltransferase MeSH
- purine MeSH Browser
- Purines MeSH
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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