Urinary sialic acid screening in neurologic disorders

James Edwin Carroll, R. August Roesel, Robert H. DuRant, Anne M. Nelson, Patricia L. Hartlage, Dorothy A. Hahn, Frits A. Hommes

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)67-71
Number of pages5
JournalPediatric Neurology
Volume2
Issue number2
DOIs
StatePublished - Jan 1 1986

Fingerprint

N-Acetylneuraminic Acid
Nervous System Diseases
Mucolipidoses
Mucopolysaccharidosis III
Pseudohypoparathyroidism
Sinus Histiocytosis
Intellectual Disability
Neurodegenerative Diseases
Seizures
Urine

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Carroll, J. E., Roesel, R. A., DuRant, R. H., Nelson, A. M., Hartlage, P. L., Hahn, D. A., & Hommes, F. A. (1986). Urinary sialic acid screening in neurologic disorders. Pediatric Neurology, 2(2), 67-71. https://doi.org/10.1016/0887-8994(86)90059-7

Urinary sialic acid screening in neurologic disorders. / Carroll, James Edwin; Roesel, R. August; DuRant, Robert H.; Nelson, Anne M.; Hartlage, Patricia L.; Hahn, Dorothy A.; Hommes, Frits A.

In: Pediatric Neurology, Vol. 2, No. 2, 01.01.1986, p. 67-71.

Research output: Contribution to journalArticle

Carroll, JE, Roesel, RA, DuRant, RH, Nelson, AM, Hartlage, PL, Hahn, DA & Hommes, FA 1986, 'Urinary sialic acid screening in neurologic disorders', Pediatric Neurology, vol. 2, no. 2, pp. 67-71. https://doi.org/10.1016/0887-8994(86)90059-7
Carroll JE, Roesel RA, DuRant RH, Nelson AM, Hartlage PL, Hahn DA et al. Urinary sialic acid screening in neurologic disorders. Pediatric Neurology. 1986 Jan 1;2(2):67-71. https://doi.org/10.1016/0887-8994(86)90059-7
Carroll, James Edwin ; Roesel, R. August ; DuRant, Robert H. ; Nelson, Anne M. ; Hartlage, Patricia L. ; Hahn, Dorothy A. ; Hommes, Frits A. / Urinary sialic acid screening in neurologic disorders. In: Pediatric Neurology. 1986 ; Vol. 2, No. 2. pp. 67-71.
@article{47b7a9fbd2ad40dd9bc06ce9d7686530,
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.",
author = "Carroll, {James Edwin} and Roesel, {R. August} and DuRant, {Robert H.} and Nelson, {Anne M.} and Hartlage, {Patricia L.} and Hahn, {Dorothy A.} and Hommes, {Frits A.}",
year = "1986",
month = "1",
day = "1",
doi = "10.1016/0887-8994(86)90059-7",
language = "English (US)",
volume = "2",
pages = "67--71",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",
number = "2",

}

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.

UR - http://www.scopus.com/inward/record.url?scp=0022904957&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0022904957&partnerID=8YFLogxK

U2 - 10.1016/0887-8994(86)90059-7

DO - 10.1016/0887-8994(86)90059-7

M3 - Article

C2 - 3508681

AN - SCOPUS:0022904957

VL - 2

SP - 67

EP - 71

JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

IS - 2

ER -