Age-related reference values for urinary excretion of sialic acid and deoxysialic acid: application to diagnosis of storage disorders of free sialic acid.

@article{Romppanen1995AgerelatedRV,
  title={Age-related reference values for urinary excretion of sialic acid and deoxysialic acid: application to diagnosis of storage disorders of free sialic acid.},
  author={Jarkko Romppanen and Ilkka Mononen},
  journal={Clinical chemistry},
  year={1995},
  volume={41 4},
  pages={
          544-7
        }
}
We have established by HPLC age-related reference intervals for sialic acid urinary excretion in 364 control individuals to assist in evaluating the clinical significance of the free sialic acid concentration in urine. In addition, an HPLC method for quantitative analysis of free deoxysialic acid was developed, and age-related reference intervals for excretion of this compound in urine were established. In patients with storage disorders of free sialic acid (n = 11) the sialic acid excretion… Expand
Comparison of Sialic Acids Excretion in Spot Urines and 24-Hour-Urines of Children and Adults
  • S. Fang-Kircher
  • Chemistry, Medicine
  • European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies
  • 1997
TLDR
The comparison of 24-hour urines and spot urines confirms the reliability of results for spot urine results, however, the urine collection over an extended period yields additional information. Expand
Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease.
TLDR
The HPLC-tandem MS method for free sialic acid in urine is more rapid, accurate, sensitive, selective, and robust than earlier methods and may serve as a candidate reference method for the diagnosis of SSD. Expand
Jarkko Romppanen Serum Sialic Acid in Clinical Diagnostics
N-acetylneuraminic acid (referred to as sialic acid) is a negatively charged nine-carbon monosaccharide commonly attached to the carbohydrate chains of glycoproteins and glycolipids. An elevation inExpand
Free sialic acid storage disease without sialuria
TLDR
High‐resolution in vitro proton nuclear magnetic resonance spectroscopy on cerebrospinal fluid and urine samples of 44 patients with leukodystrophies of unknown cause demonstrates that mutations in the SLC17A5 gene have to be considered in patients with hypomyelination, even in the absence of sialuria. Expand
Pyridinium crosslinks of collagen as a marker of bone resorption rates in children and adolescents: normal values and clinical application.
TLDR
It is concluded that measurement of urinary Pyr and DPyr excretion in children may be a valuable tool to assess bone resorption rates in population-based studies and in individual patients, however, only qualitative evaluation of disease severity and response to treatment seems justified. Expand
Determination of sialic acids in biological fluids using reversed-phase ion-pair high-performance liquid chromatography.
  • P. Siskos, M. Spyridaki
  • Chemistry, Medicine
  • Journal of chromatography. B, Biomedical sciences and applications
  • 1999
TLDR
The present method is reported for the first time for the determination of sialic acids in biological fluids and has been applied to normal and pathological sera from patients with breast, stomach, colon, ovarian and cervix cancers, to normal urine and urine from patient with sialuria and to normal saliva. Expand
The nutritional role of free sialic acid, a human milk monosaccharide, and its application as a functional food ingredient
TLDR
The emerging data demonstrating that free NANA is linked to positive nutritional effects including pronounced antioxidative properties justify dietary enrichment at levels that correspond to the dietary intake of NANA in infants through breast milk. Expand
Separation methods for sialic acids and critical evaluation of their biologic relevance.
  • F. Lamari, N. Karamanos
  • Chemistry, Medicine
  • Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
  • 2002
TLDR
The methodology developed to isolate and liberate sialic acids from biologic samples as well as the chromatographic, electromigration and hyphenated techniques available for their separation and analysis are summarized. Expand
N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism.
TLDR
H-NMR spectroscopy may be used to identify and quantify N-acetylated metabolites of diagnostic importance for the field of inborn errors of metabolism. Expand
An improved spectrophotometric method for the determination of free, bound and total N-acetylneuraminic acid in biological fluids
Abstract The spectrophotometric periodate-resorcinol method for the measurement of free, bound and total N-acetylneuraminic acid has been modified. The proposed method improves sensitivity by 27%,Expand
...
1
2
...

References

SHOWING 1-10 OF 26 REFERENCES
A thin layer chromatographic technique for screening for sialuria.
TLDR
A rapid chromatographic procedure for the screening of free urinary sialic acid in different types of sialuria is proposed. Expand
Free N-acetylneuraminic acid in tissues in Salla disease and the enzymes involved in its metabolism.
TLDR
Quantification of N-acetylneuraminic acid was performed using a new gas-chromatography/mass spectrometric single-ion method which is sensitive and specific and no abnormalities in the activity of several enzymes involved in sialic acid metabolism were demonstrable. Expand
Hyperexcretion of free N-acetylneuraminic acid--a novel type of sialuria.
TLDR
The clinical and morphological findings are different suggesting a novel type of sialuria, and the patient is mildly retarded, has slight changes in the spine, but no hepato- or splenomegaly. Expand
Isolation and identification of 2-deoxy-2,3-dehydro-N-acetylneuraminic acid from the urine of a patient with sialuria.
TLDR
The structure has been elucidated by mass spectrometry and confirmed by comparison with the synthetic compound and the properties of this unsaturated sialic acid in the orcinol/Fe3+/HCl and the periodic acid/thiobarbituric acid tests as well as in thin-layer and gas-liquid chromatography are described. Expand
Quantitative determination of neuraminic acid by gas chromatography — mass spectrometry
TLDR
The method was applied to the analysis of neuraminic acid in a crude protein fraction from rat brain using the multiple-ion-detection technique, which allows an accurate determination of the compound from 1 ng (3.3 pmdl) up to micrograms. Expand
Differential effect of various inhibitors on four types of rat sialidase
TLDR
By the differential effect of these inhibitors, the four types of rat sIALidase could be discriminated from one another and furthermore from viral and bacterial sialidases. Expand
Clinical and laboratory diagnosis of Salla disease in infancy and childhood.
TLDR
The clinical features of Salla disease in six infants and young children are described and the background for laboratory diagnosis by thin-layer chromatography or spectrophotometric determination of sialic acid in urine is provided. Expand
High-pressure liquid chromatography of sialic acids on a pellicular resin anion-exchange column with pulsed amperometric detection: a comparison with six other systems.
TLDR
A new method for the separation of sialic acids at neutral pH on a Carbopac PA-1 anion-exchange column of pellicular resin, with pulsed amperometric detection following postcolumn addition of alkali is reported. Expand
Detection of sialuria by cation-exchange high-performance liquid chromatography.
  • I. Mononen
  • Chemistry, Medicine
  • Journal of chromatography
  • 1986
TLDR
A simple and selective method for the detection of sialuria by high-performance liquid chromatography is described, and the method was tested on twenty normal individuals and four sIALuria patients. Expand
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease.
Normal fibroblasts exposed to N-acetylmannosamine yielded lysosome-rich granular fractions loaded with free (unbound) sialic acid, whose velocity of egress increased with increasing initial loading.Expand
...
1
2
3
...