{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:41:46Z","timestamp":1790170906795,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2001,6,1]],"date-time":"2001-06-01T00:00:00Z","timestamp":991353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2001,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sialuria is a rare inborn error of metabolism in which excessive free sialic acid (<jats:italic>N<\/jats:italic>\u2010acetylneuraminic acid, NeuAc) is synthesized. A defect in the feedback inhibition of UDP\u2010<jats:italic>N<\/jats:italic>\u2010acetylglucosamine (UDP\u2010GlcNAc) 2\u2010epimerase by the end\u2010product of the sialic acid synthetic pathway, CMP\u2010NeuAc, is the mechanism underlying this overproduction. Recent evidence suggests that sialuria is an autosomal dominant disorder. Only five patients have been documented to have such an enzymatic defect. We report a longitudinal study of one of the original sialuria patients, to age 11 years. Although he has coarse features and massive hepatomegaly, he has shown normal growth and relatively normal development. Pulmonary function testing showed minimal small airway obstruction. At 11 years, he developed intermittent abdominal pain and transient transaminase elevation above his baseline. Sialuria should be considered in the differential diagnosis of a patient with a phenotype suggestive of a mucopolysaccharidosis or oligosaccharidosis in the absence of developmental regression or prominent dysostosis multiplex. We recommend close monitoring of liver and pulmonary function in sialuria patients.<\/jats:p>","DOI":"10.1023\/a:1010588115479","type":"journal-article","created":{"date-parts":[[2002,12,23]],"date-time":"2002-12-23T17:42:08Z","timestamp":1040665328000},"page":"328-336","source":"Crossref","is-referenced-by-count":31,"title":["Clinical course and biochemistry of sialuria"],"prefix":"10.1002","volume":"24","author":[{"given":"G. M.","family":"Enns","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Stanford University  California"},{"name":"Division of Medical Genetics, Department of Pediatrics University of California  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Seppala","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development National Institutes of Health  Maryland USA"},{"name":"Department of Pathology Oulu University  Oulu Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. J.","family":"Musci","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology  USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Weisiger","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. D.","family":"Ferrell","sequence":"additional","affiliation":[{"name":"Department of Pathology University of California  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. A.","family":"Wenger","sequence":"additional","affiliation":[{"name":"Department of Neurology Jefferson Medical College  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. A.","family":"Gahl","sequence":"additional","affiliation":[{"name":"Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development National Institutes of Health  Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Packman","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of California  San Francisco California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800480"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2852"},{"key":"e_1_2_1_4_1","first-page":"1","article-title":"La sialurie: un trouble m\u00e9tabolique original","volume":"23","author":"Fontaine G","year":"1968","journal-title":"Helv Paediatr Acta (Suppl. 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