High-resolution electrophoresis of urinary glycosaminoglycans: An improved screening test for the mucopolysaccharidoses

Hopwood, John J.; Harrison, J. R.

doi:10.1016/0003-2697(82)90674-1

Cited by 132 publications

(63 citation statements)

References 16 publications

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“…The screening study was carried out from urine samples for glycosaminoglycans (GAGs) [both quantitative and qualitative] (Dembure and Roesel 1991;Hopwood and Harrison 1982) and plasma was analyzed for chitotriosidase activity (Aerts et al 2008;Sheth et al 2010) and mucolipidosis II/III [ML II/III] screening . Leukocytes were isolated from whole blood and were processed by standard protocol for enzyme assay using 4-MU fluorometric assay or PNCS spectrophotometric synthetic substrate as outlined by Shapria et al (1989); Filocamo and Morrone (2011);and Sheth et al (2004).…”

Section: Methodsmentioning

confidence: 99%

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

et al. 2013

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Lysosomal storage disorders (LSDs) are considered to be a rare metabolic disease for the national health forum, clinicians, and scientists. This study aimed to know the prevalence of different LSDs, their geographical variation, and burden on the society. It included 1,110 children from January 2002 to December 2012, having coarse facial features, hepatomegaly or hepatosplenomegaly, skeletal dysplasia, neuroregression, leukodystrophy, developmental delay, cerebral-cerebellar atrophy, and abnormal ophthalmic findings. All subjects were screened for I-cell disease, glycolipid storage disorders (NiemannPick disease A/B, Gaucher), and mucopolysaccharide disorders followed by confirmatory lysosomal enzymes study from leucocytes and/or fibroblasts. Niemann-Pick disease-C (NPC) was confirmed by fibroblasts study using filipin stain. Various storage disorders were detected in 387 children (34.8 %) with highest prevalence of glycolipid storage disorders in 48 %, followed by mucopolysaccharide disorders in 22 % and defective sulfatide degradation in 14 % of the children. Less common defects were glycogen degradation defect and protein degradation defect in 5 % each, lysosomal trafficking protein defect in 4 %, and transport defect in 3 % of the patients. This study demonstrates higher incidence of Gaucher disease (16 %) followed by GM2 gangliosidosis that includes Tay-Sachs disease (10 %) and Sandhoff disease (7.8 %) and mucopolysaccharide disorders among all LSDs. Nearly 30 % of the affected children were born to consanguineous parents and this was higher (72 %) in children with Batten disease. Our study also demonstrates two common mutations c.1277_1278insTATC in 14.28 % (4/28) and c.964G>T (p.D322Y) in 10.7 % (3/28) for Tay-Sachs disease in addition to the earlier reported c.1385A>T (p.E462V) mutation in 21.42 % (6/28).

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Section: Methodsmentioning

confidence: 99%

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

et al. 2013

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“…6,7 Standard molecular biology techniques, such as PCR, SSCP, RFLP and sequencing, were used in mutation analysis. Genotype analysis was performed to exclude pseudodeficiency alleles in MLD, 8 to identify polymorphisms responsible for low enzymatic activity in Krabbe's disease 9 and as diagnostic criteria in NCL 3.…”

Section: Methodsmentioning

confidence: 99%

Prevalence of lysosomal storage diseases in Portugal

Pinto¹,

Caseiro²,

Lemos³

et al. 2003

Eur J Hum Genet

294

188

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“…Quantitative GAG testing was performed as described by de Jong (de Jong et al 1989) and Dembure and Roesel (1991). Qualitative analysis was performed according to Hopwood and Harrison (1982). Tandem mass spectrometry measurements for urine GAGs were performed as described by Zhang et al (2011) andZhang (2012).…”

Section: Urine Samplesmentioning

confidence: 99%

Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses

et al. 2013

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High-resolution electrophoresis of urinary glycosaminoglycans: An improved screening test for the mucopolysaccharidoses

Cited by 132 publications

References 16 publications

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

Prevalence of lysosomal storage diseases in Portugal

Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses

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