Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt

Fateen, Ekram; Abdallah, Zeinab Y.; Nazim, Walaa S.; Ibrahim, Mona M.; Radwan, Amira

doi:10.1016/j.heliyon.2021.e07830

Cited by 5 publications

(3 citation statements)

References 60 publications

(89 reference statements)

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“…Our ndings are similar with Sheth et al, 2014 andGupta et al, 2018, who also reported MPSI as the most prevalent among MPS disorders and these differ with Kadali et al, 2016 as they reported MPS IVA is the most common in India. MPS I is the most common MPS type even in countries like Egypt (Fateen et al, 2021), Tunisia (Ben et al, 2009, Denmark, Norway (Malm et al, 2008), and America (Lowry et al, 1990). MPS III is the most common in Germany, Netherlands, and Emirates (Al-Jasmi et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Application of pathogenicity scores as diagnostic and prognostic markers for MPS disorders: In-silico analysis in MPS I

Kadali¹,

Bodiga

Naushad³

2023

Preprint

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Mucopolysaccharidoses (MPSs) is a major group of the Lysosomal storage disorders (LSDs) with defective degradation of glycosaminoglycans (GAGs) due to deficiency of certain lysosomal enzymes. Enzyme replacement therapy (ERT) or bone marrow transplantation are the key therapeutic options available for MPS disorders. Early diagnosis and appropriate intervention improve the therapeutic efficacy. To establish a genotype-phenotype correlation of MPS disorders, a combination of bioinformatic tools including FATHMM, I-Mutant, PolyPhen-2, PATHER, PHD-SNP, SNP&GO, SIFT, PROVEAN, CUPSAT, SNAP2 are utilized. These in silico tools and urinary GAG levels helped in monitoring the response to enzyme replacement therapy (ERT). Enzyme activity was inversely associated with SNAP2 (r= -0.36, p = 0.04), Polyphen-2 (r = − 0.44, p = 0.009) and Evolutionary preservation time (r= -0.396, p = 0.02). This suggests that subjects having mutations with higher SNAP2 and Polyphen-2 score tend to have lower enzyme activity. ERT lead to 7–31% decrease in urinary GAG levels in seven MPS I patients. The determined pathogenicity scores using the bioinformatic tools are serving as prognostic markers indicating a response to therapy. Urinary GAG excretion is the primary end point to monitor the therapeutic efficacy.

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Section: Discussionmentioning

confidence: 99%

Application of pathogenicity scores as diagnostic and prognostic markers for MPS disorders: In-silico analysis in MPS I

Kadali¹,

Bodiga

Naushad³

2023

Preprint

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“…, and Taiwan (28) ; MPS III in Egypt (29) , Australia (9) , The Netherlands (15) , Portugal (13) , and Czech Republic ; and MPS VI in Egypt (6) and UAE (17) .…”

Section: Discussionmentioning

confidence: 99%

Characterization of 42 Egyptian Children with Lysosomal Storage Disorders

Fahmy¹,

Abdelkreem²,

Mohamed³

et al. 2022

The Egyptian Journal of Hospital Medicine

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Background: Lysosomal storage disorders (LSDs) are a heterogeneous family of genetic diseases with a broad phenotypic spectrum. There is a paucity of data on LSDs from developing countries. Objective: We aimed to study the pattern, relative frequency, and phenotypic spectrum of LSDs in children at an Egyptian medical center. Patients and Methods: This study included children < 18 years with LSDs diagnosed and followed up at an Egyptian medical center from January 2018 to December 2021. Data were collected on patients' demographics, clinical features, characteristic metabolites, specific enzyme assay, and genetic testing. Results: Forty-two children (62% males, 74% parental consanguinity and 26% positive family history) were diagnosed with 10 different LSDs, representing 14% of all cases with inborn errors of metabolism (IEMs). The most frequent LSDs groups were mucopolysaccharidosis (MPS) (52.4%) and sphingolipidosis (40.8%). The most common individual diseases were MPS I (26.2%), Gaucher disease (23.8), MPS III (16.7%), and acid sphingomyelinase deficiency (11.9%). The median age at presentation was two years with a median diagnostic delay of 12 months. The most common clinical manifestations were delayed development, intellectual disability, visceromegaly, coarse facial features, and skeletal abnormalities. Finally, genetic data were available for only 12 patients (8 Gaucher disease, 3 MPS-III, and 1 MPS-VI). Conclusion: LSDs (most commonly MPS and Gaucher disease) represent an important part of IEMs at our medical center, and the diagnosis seems challenging and often delayed.

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“…In a study that included 1249 Egyptian patients, referred to the Biochemical Genetics Laboratory at the National Research Centre (NRC) during a period of 11 years, for the diagnosis or exclusion of MPS, Fateen et al, (2014) found that MPS type I patients constituted 28.5% of the diagnosed MPS patients. A follow-up study by Fateen et al, (2021) reported that MPS-I represented 27.7% of the diagnosed MPS patients. The authors stated that the incidence of MPS-I in Egypt is unknown, with an estimate of 1/ 100,000 for Hurler syndrome, 1/ 500,000 for Scheie syndrome and 1/ 115,000 for Hurler-Scheie syndrome.…”

Section: Introductionmentioning

confidence: 99%

Management of MPS-I using ERT: The Egyptian experience

Fateen,

Sahrigy,

Ibrahim

et al. 2023

Preprint

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Background Mucopolysaccharidosis type I (MPS I) is an autosomal recessive multisystem lysosomal storage disorder. Methods Herein, we report the Egyptian experience of enzyme replacement therapy (ERT) for MPS type I patients and the faced challenges. Thirty-eight MPS-I patients were examined at presentation and throughout ERT to evaluate its effect on different body systems. Clinical and radiological examination of the patients confirmed the characteristic manifestations. Results Follow up after one year of ERT initiation revealed improvement of respiratory function tests, significant decrease in the size of liver and spleen, a stationary course of cardiac problems and a decrease of total urinary glycosaminoglycans (GAGs) levels. We experienced the problems of late presentation, time consuming procedures to get approval for ERT and receiving the treatment thus, leading to delayed ERT initiation in addition to irregular interrupted ERT courses due to delay in treatment renewal and difficulties in patient’s transportation from far governorates. Laronidase was generally well tolerated apart from mild infusion-related adverse reactions. Conclusion ERT is an effective treatment in the management of MPS-I patients. Early diagnosis, less complicated process for treatment approval, effecient multidisciplinary centers that are aware of the disease manifestations and able to provide ERT are recommended.

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Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt

Cited by 5 publications

References 60 publications

Application of pathogenicity scores as diagnostic and prognostic markers for MPS disorders: In-silico analysis in MPS I

Application of pathogenicity scores as diagnostic and prognostic markers for MPS disorders: In-silico analysis in MPS I

Characterization of 42 Egyptian Children with Lysosomal Storage Disorders

Management of MPS-I using ERT: The Egyptian experience

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