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: | |
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| Format: | Monograph |
| Language: | English |
| Published: |
Pusat Pengajian Sains Perubatan, Universiti Sains Malaysia
2013
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| Subjects: | |
| Online Access: | http://eprints.usm.my/54976/1/DR%20JULIA%20OMAR-Eprints.pdf http://eprints.usm.my/54976/ |
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| Summary: | 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. |
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