Stability of urinary glycosaminoglycans in patients with mucopolysaccharidoses

Andrade, Fernando; Prieto, José Manuel Compaña; Elorz, Javier; Martín, S. Martín; Sanjurjo, Pablo; Aldámiz‐Echevarría, Luis

doi:10.1016/j.cca.2007.10.007

Cited by 21 publications

(13 citation statements)

References 22 publications

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“…The first step to confirm the clinical diagnosis of MPS is quantitative analysis of urinary GAG, although this does not help classify patients into the different subgroups. Some methods for detection of GAG in urine, however, may fail to detect increased urinary excretion of HS, as well as to differentiate between heparan, chondroitin, dermatan and keratan sulfate .…”

Section: Diagnosismentioning

confidence: 99%

Sanfilippo syndrome: Overall review

Andrade

Aldámiz‐Echevarría

Llarena

et al. 2015

Pediatrics International

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104

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Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of the four enzymes involved in the catabolism of glycosaminoglycan heparan sulfate. It is characterized by progressive cognitive decline and severe hyperactivity, with relatively mild somatic features. This review focuses on clinical features, diagnosis, treatment, and follow-up of MPS III, and provides information about supplementary tests and differential diagnosis. Given that few reviews of MPS III have been published, several studies were compiled to establish diagnostic recommendations. Quantitative urinary glycosaminoglycan analysis is strongly recommended, and measurement of disaccharides, heparin cofactor II-thrombin complex and gangliosides is also used. Enzyme activity of the different enzymes in blood serum, leukocytes or fibroblasts, and mutational analysis for SGSH, NAGLU, HGSNAT or GNS genes are required to confirm diagnosis and differentiate four subtypes of MPS III. Although there is no global consensus for treatment, enzyme replacement therapy and gene therapy can provide appropriate results. In this regard, recent publications on treatment and follow-up are discussed.

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Section: Diagnosismentioning

confidence: 99%

Sanfilippo syndrome: Overall review

Andrade

Aldámiz‐Echevarría

Llarena

et al. 2015

Pediatrics International

Self Cite

104

View full text Add to dashboard Cite

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“…Mucopolysaccharidosis III is characterized by an inability to catabolize heparan sulfate, leading to the excretion of this molecule in the urine . A uGAG assay is therefore the usual first step in making a biochemical diagnosis, as it is noninvasive and convenient – uGAGs stay stable at room temperature for up to 10 days, so urine samples do not need to be frozen for transport to the laboratory . Both semi‐quantitative assays (e.g.…”

Section: Biochemical Testing For Mps IIImentioning

confidence: 99%

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

et al. 2013

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Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit/hyperactivity disorder and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments.Conclusion: Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III.

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“…The quantitative determination was performed by the method previously reported by our group (20). Briefly, a blank solution is prepared by mixing 500 ml water and 2.5 ml DMB solution.…”

Section: Quantitative Assay Proceduresmentioning

confidence: 99%

Reliability of a visual test for the rapid detection of mucopolysaccharidoses: GAG-test®

Lage¹,

Prieto²,

Andrade³

et al. 2011

J. Clin. Lab. Anal.

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Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, characterized by the deficiency/absence of one of the enzymes involved in the intralysosomal degradation of glycosaminoglycans (GAGs). The quantitative determination of urinary GAGs using dimethylmethylene blue (DMB) shows high reliability. However, the logistics and staff for this method are not always available in primary care centers. Sending urine samples to reference laboratories increases the cost and delays the diagnosis. Thus, the aim of this article is to develop and evaluate a simple and low-cost visual test (GAG-test(®)) for the screening of urine samples from patients under suspicion of suffering from MPS. The purpose is to narrow down the number of samples to be assayed through the quantitative method. A measure of 50 µl urine was added to 2 ml DMB solution. A color change from dark blue to purple indicates an excess of GAGs. The quantitative analyses showed a significant difference between controls' and patients' concentrations (P<0.05). After optimization of the composition, positive and negative results obtained with the qualitative test were able to discriminate between normal urines and those from patients suffering from mucopolysaccharidosis. Therefore, GAG-test(®) has proved to be a useful tool for the prior diagnosis of patients suffering from mucopolysaccharidosis, reducing the number of individuals with whom investigations should be continued.

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Stability of urinary glycosaminoglycans in patients with mucopolysaccharidoses

Cited by 21 publications

References 22 publications

Sanfilippo syndrome: Overall review

Sanfilippo syndrome: Overall review

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

Reliability of a visual test for the rapid detection of mucopolysaccharidoses: GAG-test®

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