sialuria

A lysosomal storage disease characterized by increased sialic acid in the urine.

Signs and symptoms

• Increased level of N-acetylneuraminic acid in urine
• Hepatomegaly
• Coarse facial features
• Epicanthus
• Long philtrum
• Thoracic hypoplasia
• Inguinal hernia
• Seizure
• Low posterior hairline
• Smooth philtrum