A case of sialuria is described in a girl who presented in the neonatal period with hepatosplenomegaly, and who has moderate developmental delay at the age of 2 years. There was massive urinary excret...
Sialuria: a follow-up report.
Don NA, Wilcken B.
St. George Hospital, Oliver Latham Laboratory, Camperdown, Sydney, Australia.
PMID: 1779656 [PubMed - indexed for MEDLINE]
Sialuria is a rare inborn error of metabolism in which excessive free sialic acid (N-acetylneuraminic acid, NeuAc) is synthesized. A defect in the feedback inhibition of UDP-N-acetylglucosamine (UDP-G...
Sialuria is a rare inborn error of metabolism, the hallmarks of which are moderate developmental retardation, coarse facial features, and an enormous amount of free N-acetylneuraminic acid (sialic aci...