Development and Testing of New Screening Method for Keratan Sulfate in Mucopolysaccharidosis IVA

@article{Tomatsu2004DevelopmentAT,
  title={Development and Testing of New Screening Method for Keratan Sulfate in Mucopolysaccharidosis IVA},
  author={S. Tomatsu and K. Okamura and T. Taketani and K. Orii and T. Nishioka and M. Gutierrez and S. Velez-Castrillon and A. Fachel and J. Grubb and A. Cooper and M. Thornley and E. Wraith and L. A. Barrera and R. Giugliani and I. Schwartz and G. S. Frenking and M. Beck and S. Kircher and E. Paschke and S. Yamaguchi and K. Ullrich and K. Isogai and Yasuyuki Suzuki and T. Orii and N. Kondo and M. Creer and A. Noguchi},
  journal={Pediatric Research},
  year={2004},
  volume={55},
  pages={592-597}
}
Mucopolysaccharidosis IVA (MPS IVA), a progressive lysosomal storage disease, causes skeletal dysplasia through excessive storage of keratan sulfate (KS). We developed an ELISA-sandwich assay that used a MAb specific to KS. Forty-five blood and 59 urine specimens from MPS IVA patients (ages 1–65 y) were analyzed to determine whether KS concentration is a suitable marker for early diagnosis and longitudinal assessment of disease severity. Blood specimens were obtained from patients categorized… Expand
Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography–tandem mass spectrometry
TLDR
It was found that blood KS level varied with age and clinical severity in the patients, and the new KS assay for blood is suitable for early diagnosis and longitudinal assessment of disease severity in MPS IVA. Expand
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
TLDR
Evidence for extensive allelic heterogeneity of MPS IVA is provided and accumulation of mutations as well as clinical descriptions and KS levels allows us to predict clinical severity more precisely and should be used for evaluation of responses to potential treatment options. Expand
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
TLDR
The multiplex LC-MS/MS assay provides a robust and very sensitive assay for the diagnosis of the complete spectrum of MPSs and has the potential to identify MPS related disorders such as MLII/MLIII. Expand
Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.
TLDR
While the UPLC-MS/MS urine KS method is 100% sensitive for the detection of patients with MPS IVA, elevated urine KS is not specific for this condition, and caution is advised when interpreting urinary keratan sulfate results. Expand
Newborn screening and diagnosis of mucopolysaccharidoses.
TLDR
The findings show that the combined measurements of these three GAGs are sensitive and specific for detecting all types of MPS with acceptable false negative/positive rates, and this method will also be used for monitoring therapeutic efficacy. Expand
Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I
TLDR
Blood and urine levels of DS and HS provide an intrinsic monitoring and screening tool for MPS I patients and are evaluated from dried blood-spot samples of three Mps I newborn patients, showing marked elevation ofDS and HS levels compared with those in control newborns. Expand
Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis.
TLDR
Overall, measurement of GAG levels in blood and urine is useful for diagnosis of MPS, while urine KS is not a useful biomarker for monitoring therapeutic efficacy in MPS IVA. Expand
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.
TLDR
Measurement of GAG levels in DBS is useful for diagnosis and potentially for monitoring the therapeutic efficacy in MPS, indicating that both treatments are effective in decreasing blood G AG levels. Expand
Diagnosing mucopolysaccharidosis IVA
TLDR
A diagnostic testing algorithm is presented which attempts to streamline this complex testing process and requires agreement of clinical, radiographic, and laboratory findings. Expand
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples.
TLDR
The immune assay described here had the capacity to accurately measure the amount of GALNS protein in various biological samples, providing the basis of an assay that could be further developed to enable newborn and high-risk population screening for MPS IVA patients. Expand
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References

SHOWING 1-10 OF 15 REFERENCES
Heterogeneity of Morquio disease
TLDR
It is concluded that Morquio disease can be divided in several subgroups: besides the severe (“classical”) type A there exist an intermediate and a mild form that are also caused by a GalNAc‐6‐S sulfatase deficiency. Expand
Biochemical defect of non-keratan sulfate excreting Morquio syndrome
TLDR
An enzymatic defect is identified in one form of non-keratan-sulfate-excreting Morquio (NKSE MorquIO) syndrome and the absence of keratosulfaturia is confirmed in this mild form ofMorquio disease. Expand
Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion.
TLDR
This quantitative method surmounts the major technical problems of developing mass screening programs for infants, thus offering the potential for earlier diagnosis and treatment of mucopolysaccharidosis diseases. Expand
Urinary glycosaminoglycan excretion quantified by an automated semimicro method in specimens conveniently transported from around the globe.
TLDR
Automation of the direct DMB method provides the key technology necessary for newborn screening for MPS diseases. Expand
Serum keratan sulfate levels in osteoarthritis patients.
TLDR
The results suggest that patients with hypertrophic OA may have a generalized imbalance of cartilage proteoglycan metabolism, which is likely to prove most useful in studying this particular subset of patients with generalized OA. Expand
Mucopolysaccharidosis type IVA (morquio syndrome): A clinical review
TLDR
A prophylactic approach to surgery is suggested in this review, although it is by no means clear that all patients will invariably develop cervical myelopathy if left untreated. Expand
Age Related Changes in the Concentration of Serum Keratan Sulphate in Children
TLDR
Serum concentrations of keratan sulphate did not show significant differences with respect to disease category, sex or race but were found to vary, sometimes markedly, from child to child at any one age, suggesting human cartilage undergoes significant changes in metabolic activities during maturation. Expand
The effects of acid glycosaminoglycans on neonatal calvarian cultures--a role of keratan sulfate in Morquio syndrome?
TLDR
The specific keratan sulfate effects of inhibiting osteoblast activity and toxicity towards bone, which were never tested before, suggest a role for this glycosaminoglycan in the pathogenesis of bone dysplasia in Morquio syndrome. Expand
Quantification of keratan sulfate in blood as a marker of cartilage catabolism.
TLDR
If the appearance of elevated levels of serumKS do indeed correlate with the extent of cartilage erosion or destruction in individuals with OA, measurements of serum KS levels will prove extremely useful in the assessment and diagnosis of this joint disease. Expand
Circulating keratan sulfate: a marker of cartilage proteoglycan catabolism in osteoarthritis.
TLDR
Levels of the keratan sulfate epitope are elevated in patients with generalized osteoarthritis (OA), indicating these individuals have elevated rates of cartilage proteoglycan catabolism. Expand
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