Determination of Biological Variance and Validation of a Fluorometric Assay for Measurement of α-l-Iduronidase Activity in Dried Blood Spots Samples: The First Experience in Iran

Abdi, Mohammad; Hakhamaneshi, Mohammad Said; Alaei, Mohammad Reza; Azadi, Nammam Ali; Vakili, Rahim; Zamanfar, Daniel; Taghikhani, Mohammad; Khatami, Shohreh

doi:10.1007/s12291-014-0444-2

Cited by 4 publications

(6 citation statements)

References 20 publications

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“…8 Results were expressed as µmol/spot incubation time, and the low range results were confirmed by IDUA leukocyte assay. 8 Results were expressed as µmol/spot incubation time, and the low range results were confirmed by IDUA leukocyte assay.…”

Section: Biochemical Analysismentioning

confidence: 95%

“…IDUA activity in DBS samples was measured according to our previously standardized method. 8 Results were expressed as µmol/spot incubation time, and the low range results were confirmed by IDUA leukocyte assay.…”

Section: Biochemical Analysismentioning

confidence: 95%

“…1 Among the other approaches, enzyme replacement therapy with Laronidase (recombinant human IDUA; Aldurazyme (Genzyme Corporation) is mainly used to treat MPSI in United States, Europe, and many other countries. 8 It is seriously important to always determine and update the genotypic information of a population for a specific disease. 3,4 The IDUA gene is located on chromosome 4p16.…”

Section: Introductionmentioning

confidence: 99%

“…Therefore, the similar residual enzyme activity values can be obtained for described three phenotypes. 8 Molecular characterization of the genetic mutational spectrum and polymorphism distribution may help in MPSI diagnosis and primary prediction of disease severity, providing accurate carrier detection and informative genetic counseling, which is important considering the clinical outcome and choice of treatment options.…”

Section: Introductionmentioning

confidence: 99%

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Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I

Taghikhani

Khatami

Abdi

et al. 2019

Clinical Laboratory Analysis

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BackgroundMucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by a deficiency of α‐l‐iduronidase (IDUA) encoded by the IDUA gene. We examined the mutation spectrum of the IDUA gene to explain the clinical, biochemical, and molecular features in 21 Iranian patients with MPSI.MethodsSanger sequencing was used to measure the IDUA gene sequence in the coding region and exon‐intron boundaries. We recorded the clinical findings of studied patients at the first diagnosis of disease and then during the treatment and follow‐up.ResultsFive different missense disease‐causing mutations were determined in our patient groups, indicating 90.48% of detection rate. The most widespread mutation was the p.Y109H, occurring in 15.625% of all alleles, which was reported for the first time in our study. Other frequent mutations were as follows: p.Ser157Pro (12.5%), p.Gly84Arg (12.5%), p.Asp257His (9.375%), and p.Asp301Glu (9.375%). Three ones of them were new missense mutations: p.Ser157Pro, p.Asp257His, and p.Asp301Glu.DiscussionThe results of this study explain the different spectrum of IDUA gene mutations in our patients with MPSI. We introduced here 32 different variants including four new variants: p.Y109H (15.625%), p.S157P (12.5%), p.D257H (9.375%), and p.D301E (9.375%). In this series, there was no relationship between the happening of clinical features and genotype variations and biochemical findings.

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Section: Biochemical Analysismentioning

confidence: 95%

Section: Biochemical Analysismentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I

Taghikhani

Khatami

Abdi

et al. 2019

Clinical Laboratory Analysis

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“…LSDs are usually asymptomatic at birth and are characterized by clinical manifestations affecting multiple organs and systems in the body [3]. Clinical treatment is available for specific LSDs, and includes enzyme replacement therapy [4,5], hematopoietic stem cell transplantation [6], chemical chaperone therapy, and substrate reduction therapy [7]. The efficacy of many proposed therapies relies heavily upon the initiation of treatment before the onset of irreversible pathologies; therefore, early detection of these diseases before symptom onset is crucial to improving clinical outcomes following specific therapy.…”

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confidence: 99%

Multiplexed tandem mass spectrometry-based screening for five lysosomal storage disorders: A pilot study

Christopher¹

2020

Int J Med Biochem

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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. Multiplexed tandem mass spectrometry-based screening for five lysosomal storage disorders: A pilot study Objectives: The need for early detection of lysosomal storage diseases (LSDs) for which therapeutic options are available makes them attractive candidate disorders to perform high-throughput population screening. This is a pilot study designed to simultaneously screen for Krabbe, Niemann-Pick types A/B, Fabry, Gaucher and Pompe diseases in putatively normal Indian subjects, using dried blood spots and a liquid chromatography-tandem mass spectrometry method. Methods: Blood spots from 12,559 putatively normal subjects were used to measure 5 lysosomal enzymes: galactocerebrosidase, acid sphingomyelinase, α-galactosidase, β-glucocerebrosidase, and α-glucosidase. From each blood spot, 3.2-mm punches were extracted and incubated using specific substrates and internal standards. After several liquid-and solid-phase extraction steps, the resulting solution was reconstituted and injected into a triple quadrupole, liquid chromatography-tandem mass spectrometer after recombining the reaction products into a single 96-well plate. Results: A standard calibration curve demonstrated good linearity for each enzyme. No positive case was detected among the 12,559 putatively normal subjects tested. Conclusion: Tandem mass spectrometry technology makes it possible to perform high-throughput screening to identify LSDs using blood spots. Further large-scale studies to determine the population prevalence and incidence of these disorders are warranted.

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Age and gender-specific reference intervals for lysosomal enzymes in dried blood spot samples: A study in Indian population

Supriya

Christopher

2017

Clinical Biochemistry

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Determination of Biological Variance and Validation of a Fluorometric Assay for Measurement of α-l-Iduronidase Activity in Dried Blood Spots Samples: The First Experience in Iran

Cited by 4 publications

References 20 publications

Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I

Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I

Multiplexed tandem mass spectrometry-based screening for five lysosomal storage disorders: A pilot study

Age and gender-specific reference intervals for lysosomal enzymes in dried blood spot samples: A study in Indian population

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