Infantile free sialuria without lysosomal storage.
Except for two reported patients, increased free sialic acid excretion has been associated with lysosomal storage. This is a report of a child with progressive neurologic deterioration and increased excretion of free sialic acid. Although lysosomal storage was absent, nuclear invagination or inclusions were present.
D001706:Biopsy; D003241:Consanguinity; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000235:genetics; D019158:N-Acetylneuraminic Acid; D010375:Pedigree; D012794:Sialic Acids / Q000652:urine*; D012867:Skin / Q000473:pathology
D012794:Sialic Acids; D019158:N-Acetylneuraminic Acid