{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T20:44:16Z","timestamp":1786481056616,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,7,25]],"date-time":"2017-07-25T00:00:00Z","timestamp":1500940800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Phosphoribosylpyrophosphate synthetase (PRPPS) superactivity (OMIM 300661) is a rare inborn error of purine metabolism that is caused by gain\u2010of\u2010function mutations in the X\u2010chromosomal gene PRPS1 (Xq22.3). Clinical characteristics include congenital hyperuricemia and hyperuricosuria, gouty arthritis, urolithiasis, developmental delay, hypotonia, recurrent infections, short stature, and hearing loss. Only eight families with PRPPS superactivity and PRPS1 gain\u2010of\u2010function mutations have been reported to date. We report on a 7\u2010year\u2010old boy with congenital hyperuricemia, urolithiasis, developmental delay, short stature, hypospadias, and facial dysmorphisms. His mother also suffered from hyperuricemia that was diagnosed at age 13 years. A novel PRPS1 missense mutation (c.573G&gt;C, p.[Leu191Phe]) was detected in the proband and his mother. Enzyme activity analysis confirmed superactivity of PRPP synthetase. Analysis of the crystal structure of human PRPPS suggests that the Leu191Phe mutation affects the architecture of both allosteric sites, thereby preventing the allosteric inhibition of the enzyme. The family reported here broadens the clinical spectrum of PRPPS superactivity and indicates that this rare metabolic disorder might be associated with a recognizable facial gestalt.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38359","type":"journal-article","created":{"date-parts":[[2017,7,25]],"date-time":"2017-07-25T12:32:47Z","timestamp":1500985967000},"page":"2736-2742","source":"Crossref","is-referenced-by-count":17,"title":["Novel <i>PRPS1<\/i> gain\u2010of\u2010function mutation in a patient with congenital hyperuricemia and facial anomalies"],"prefix":"10.1002","volume":"173","author":[{"given":"Joseph","family":"Porrmann","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Klinische Genetik Technische Universit\u00e4t Dresden Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elitza","family":"Betcheva\u2010Krajcir","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Klinische Genetik Technische Universit\u00e4t Dresden Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9439-4677","authenticated-orcid":false,"given":"Nataliya","family":"Di Donato","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Klinische Genetik Technische Universit\u00e4t Dresden Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Karin","family":"Kahlert","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Klinische Genetik Technische Universit\u00e4t Dresden Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jens","family":"Schallner","sequence":"additional","affiliation":[{"name":"Children's hospital Universit\u00e4tsklinikum Carl Gustav Carus Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Rump","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Klinische Genetik Technische Universit\u00e4t Dresden Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelin","family":"Schr\u00f6ck","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Klinische Genetik Technische Universit\u00e4t Dresden Dresden Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doreen","family":"Dobritzsch","sequence":"additional","affiliation":[{"name":"Department of Chemistry Biomedical Center Uppsala University Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"Roelofsen","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Laboratory Genetic Metabolic Diseases Academic Medical Centre Emma Children's Hospital University of Amsterdam Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9 B. 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