Hyperexcretion of free N-acetylneuraminic acid--a novel type of sialuria.
A 26-yr-old female with increased urinary excretion of free N-acetylneuraminic acid is described. Her early history was normal but she had difficulties at school and developed epilepsy at 14. She is mildly retarded, has slight changes in the spine, but no hepato- or splenomegaly. Cerebrospinal fluid leucocytes and IgG are elevated. Liver and skin biopsies disclosed no morphological abnormality. The daily excretion of free N-acetylneuraminic acid is ca. 0.5 g, intermediate to that found in other known types of sialuria. The clinical and morphological findings are also different suggesting a novel type of sialuria.
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000652:urine*; D004830:Epilepsy, Tonic-Clonic / Q000652:urine; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000652:urine; D019158:N-Acetylneuraminic Acid; D012794:Sialic Acids / Q000652:urine*
D012794:Sialic Acids; D019158:N-Acetylneuraminic Acid