Sialuria: a second case.
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 excretion of free sialic acid (N-acetylneuraminic acid). The clinical, biochemical and ultramicroscopical features were distinct from those described in Salla disease and in infantile sialic acid storage disorder.
D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008099:Liver / Q000648:ultrastructure; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000652:urine*; D019158:N-Acetylneuraminic Acid; D012794:Sialic Acids / Q000652:urine*
D012794:Sialic Acids; D019158:N-Acetylneuraminic Acid