Unusual presentation of Kelley-Seegmiller syndrome |
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Authors: | Sebesta I Stibårková B Dvorakova L Hrebicek M Minks J Stolnaja L Vernerova Z Rychlik I |
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Institution: | Institute of Inherited Metabolic Disorders, Charles University, Prague, Czech Republic. isebes@lf1.cuni.cz |
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Abstract: | 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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