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Urinary screening to determine the positivity of DMB and high volt age electrophoresis of mucopol ysaccharidosis in suspected metabolic disorders children in HUSM

i11troductio11: Mucopolysaccharidoses (MPS) is a disease of inborn errors of metabolism (!EM). It constitutes a large and heterogenous subgroup among the lysosomal storage diseases. For the detection of this disease, urinary glycosaminoglycan (GAG) is measured by dimethlmethylene blue (DMB) assay...

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Main Author: Omar, Julia
Format: Monograph
Language:English
Published: Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia 2013
Subjects:
R Medicine
Online Access:http://eprints.usm.my/54976/1/DR%20JULIA%20OMAR-Eprints.pdf
http://eprints.usm.my/54976/
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spelling my.usm.eprints.54976 http://eprints.usm.my/54976/ Urinary screening to determine the positivity of DMB and high volt age electrophoresis of mucopol ysaccharidosis in suspected metabolic disorders children in HUSM Omar, Julia R Medicine i11troductio11: Mucopolysaccharidoses (MPS) is a disease of inborn errors of metabolism (!EM). It constitutes a large and heterogenous subgroup among the lysosomal storage diseases. For the detection of this disease, urinary glycosaminoglycan (GAG) is measured by dimethlmethylene blue (DMB) assay and high resolution electrophoresis (I-IRE) is done to characterize the different types of MPS. Objective: To screen for MPS in all urine samples suspected of inborn errors of metabolism sent to the metabolic laboratory from 1998 to 2008 and to look into the association between the positivity of DMB assay and I-IRE in the same sample Group Met/rod: All urine samples sent to the metabolic laboratory that fulfilled the inclusion criteria were analyzed for GAG and were further subjected to I-IRE. Measurement of observed agreement using Cohen's kappa coefficient (k) was used for the association between both DMB and I-IRE method. Results: A total of 134 urine samples were obtained however only 90 samples were analyzed. 28 (31.1 %) of the samples had normal GAG levels, 59 (65.6%) had GAG levels between 1-2 folds above normal limits and 3 (3.3%) samples had more than 2 folds increment above the normal limits for age. Three samples showed abnormal bands when subjected to I-IRE. Poor association between both methods (k = 0.027) was observed. Co11clusio11: This study shows that all samples with high index of suspicion ofMPS and elevated values of GAG of two folds or more should be subjected to I-IRE. Characterization of MPS through I-IRE gives the clinician some presumptive diagnosis and prognosis in managing these patients. Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia 2013 Monograph NonPeerReviewed application/pdf en http://eprints.usm.my/54976/1/DR%20JULIA%20OMAR-Eprints.pdf Omar, Julia (2013) Urinary screening to determine the positivity of DMB and high volt age electrophoresis of mucopol ysaccharidosis in suspected metabolic disorders children in HUSM. Other. Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia.
institution Universiti Sains Malaysia
building Hamzah Sendut Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Sains Malaysia
content_source USM Institutional Repository
url_provider http://eprints.usm.my/
language English
topic R Medicine
spellingShingle R Medicine
Omar, Julia
Urinary screening to determine the positivity of DMB and high volt age electrophoresis of mucopol ysaccharidosis in suspected metabolic disorders children in HUSM
description i11troductio11: Mucopolysaccharidoses (MPS) is a disease of inborn errors of metabolism (!EM). It constitutes a large and heterogenous subgroup among the lysosomal storage diseases. For the detection of this disease, urinary glycosaminoglycan (GAG) is measured by dimethlmethylene blue (DMB) assay and high resolution electrophoresis (I-IRE) is done to characterize the different types of MPS. Objective: To screen for MPS in all urine samples suspected of inborn errors of metabolism sent to the metabolic laboratory from 1998 to 2008 and to look into the association between the positivity of DMB assay and I-IRE in the same sample Group Met/rod: All urine samples sent to the metabolic laboratory that fulfilled the inclusion criteria were analyzed for GAG and were further subjected to I-IRE. Measurement of observed agreement using Cohen's kappa coefficient (k) was used for the association between both DMB and I-IRE method. Results: A total of 134 urine samples were obtained however only 90 samples were analyzed. 28 (31.1 %) of the samples had normal GAG levels, 59 (65.6%) had GAG levels between 1-2 folds above normal limits and 3 (3.3%) samples had more than 2 folds increment above the normal limits for age. Three samples showed abnormal bands when subjected to I-IRE. Poor association between both methods (k = 0.027) was observed. Co11clusio11: This study shows that all samples with high index of suspicion ofMPS and elevated values of GAG of two folds or more should be subjected to I-IRE. Characterization of MPS through I-IRE gives the clinician some presumptive diagnosis and prognosis in managing these patients.
format Monograph
author Omar, Julia
author_facet Omar, Julia
author_sort Omar, Julia
title Urinary screening to determine the positivity of DMB and high volt age electrophoresis of mucopol ysaccharidosis in suspected metabolic disorders children in HUSM
title_short Urinary screening to determine the positivity of DMB and high volt age electrophoresis of mucopol ysaccharidosis in suspected metabolic disorders children in HUSM
title_full Urinary screening to determine the positivity of DMB and high volt age electrophoresis of mucopol ysaccharidosis in suspected metabolic disorders children in HUSM
title_fullStr Urinary screening to determine the positivity of DMB and high volt age electrophoresis of mucopol ysaccharidosis in suspected metabolic disorders children in HUSM
title_full_unstemmed Urinary screening to determine the positivity of DMB and high volt age electrophoresis of mucopol ysaccharidosis in suspected metabolic disorders children in HUSM
title_sort urinary screening to determine the positivity of dmb and high volt age electrophoresis of mucopol ysaccharidosis in suspected metabolic disorders children in husm
publisher Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia
publishDate 2013
url http://eprints.usm.my/54976/1/DR%20JULIA%20OMAR-Eprints.pdf
http://eprints.usm.my/54976/
_version_ 1745563215640657920
score 13.211869

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