title: Urinary sialic acid screening in neurologic disorders.
abstract: Urine sialic acid was measured in 246 patients evaluated for possible neurodegenerative disorders. Total, free, and bound sialic acid excretion declined significantly with patients' ages. Among 11 patients (4.5%) with age-related excretion rates greater than 2 standard deviations above the mean, 5 had the following disorders: free sialic acid storage disease, mucolipidosis type II, pseudohypoparathyroidism, sinus histiocytosis, and probable Sanfilippo syndrome. Although the remaining 6 were undiagnosed, 2 exhibited deteriorating courses and the other 4 presented variable combinations of organomegaly, developmental delay or mental retardation, seizures, facial dysmorphism, or bony abnormalities. Thus, these individuals also may have metabolic disorders with abnormal excretions of sialic acid-containing compounds. With awareness of age-related excretion rates, sialic acid screening is most useful for the sialidoses, mucolipidoses, and disorders of free sialic acid metabolism.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D019158:N-Acetylneuraminic Acid; D009410:Nerve Degeneration; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000652:urine; D012794:Sialic Acids / Q000652:urine*
chemical_list: D012794:Sialic Acids; D019158:N-Acetylneuraminic Acid