TY - JOUR
T1 - Urinary sialic acid screening in neurologic disorders
AU - Carroll, James Edwin
AU - Roesel, R. August
AU - DuRant, Robert H.
AU - Nelson, Anne M.
AU - Hartlage, Patricia L.
AU - Hahn, Dorothy A.
AU - Hommes, Frits A.
PY - 1986/1/1
Y1 - 1986/1/1
N2 - 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.
AB - 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.
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U2 - 10.1016/0887-8994(86)90059-7
DO - 10.1016/0887-8994(86)90059-7
M3 - Article
C2 - 3508681
AN - SCOPUS:0022904957
SN - 0887-8994
VL - 2
SP - 67
EP - 71
JO - Pediatric Neurology
JF - Pediatric Neurology
IS - 2
ER -