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Sialuria: new observation of a rare inborn error of metabolism
https://doi.org/10.25557/2073-7998.2025.08.6-13
Abstract
Sialuria is an extremely rare disease with autosomal dominant inheritance from the group of inborn disorder of sialic acid metabolism. The most characteristic clinical manifestations of sialuria are mildly coarse facial features, moderate develomental retardation and massive urinary excretion of free sialic (N-acetylneuraminic) acid. The cause of the disease are pathogenic missense variants in GNE gene resulted in failed feedback inhibition of uridinediphosphate-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase with overproduction of sialic acid. This study presents a new case of sialuria caused by the pathogenic variant NM_005476.7 (GNE): c.797G>A, p.Arg266Gln, rs121908622 and the first experience of quantitative determination of N-acetylneuraminic acid in dried capillary blood samples by tandem mass spectrometry for the diagnosis of this disease.
Supporting agencies: The study was not supported by sponsorship
About the Authors
A. A. Gusina
Republican Scientific and Practical Center «Mother and child»
Belarus
Belarus
Asya A. Gusina
220053; 66, build. 9, Orlovskaya st.; Minsk
E. A. Kalinina
Republican Scientific and Practical Center «Mother and child»
Belarus
Belarus
220053; 66, build. 9, Orlovskaya st.; Minsk
A. V. Zinovik
Republican Scientific and Practical Center «Mother and child»
Belarus
Belarus
220053; 66, build. 9, Orlovskaya st.; Minsk
S. N. Pashuk
Republican Scientific and Practical Center «Mother and child»
Belarus
Belarus
220053; 66, build. 9, Orlovskaya st.; Minsk
N. B. Gusina
Republican Scientific and Practical Center «Mother and child»
Belarus
Belarus
220053; 66, build. 9, Orlovskaya st.; Minsk
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Review
For citations:
Gusina A.A., Kalinina E.A., Zinovik A.V., Pashuk S.N., Gusina N.B. Sialuria: new observation of a rare inborn error of metabolism. Medical Genetics. 2025;24(8):6-13. (In Russ.) https://doi.org/10.25557/2073-7998.2025.08.6-13
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