Management of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experience
Abstract Background Mucopolysaccharidosis type I (MPS I) is a known autosomal recessive lysosomal-storage disorder. The disease is caused by a deficiency of the alpha-L-iduronidase (IDUA) enzyme, accumulating the glycosaminoglycans (GAGs) in body organs and a wide phenotypic spectrum. Aim of the wor...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2025-03-01
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| Series: | Egyptian Journal of Medical Human Genetics |
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| Online Access: | https://doi.org/10.1186/s43042-025-00668-w |
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| author | Ekram Fateen Sally A. F. El Sahrigy Mona Ibrahim Rasha M. Elhossini Hoda H. Ahmed Asmaa Esmail Amira Radwan Iman Ibrahim Salama Abeer M. NourElDin Abd ElBaky Nada Ezzeldin Azza M. O. Abdel Rahman Mona Aglan |
| author_facet | Ekram Fateen Sally A. F. El Sahrigy Mona Ibrahim Rasha M. Elhossini Hoda H. Ahmed Asmaa Esmail Amira Radwan Iman Ibrahim Salama Abeer M. NourElDin Abd ElBaky Nada Ezzeldin Azza M. O. Abdel Rahman Mona Aglan |
| author_sort | Ekram Fateen |
| collection | DOAJ |
| description | Abstract Background Mucopolysaccharidosis type I (MPS I) is a known autosomal recessive lysosomal-storage disorder. The disease is caused by a deficiency of the alpha-L-iduronidase (IDUA) enzyme, accumulating the glycosaminoglycans (GAGs) in body organs and a wide phenotypic spectrum. Aim of the work: Herein, we report our experience, at the NRC, of enzyme replacement therapy (ERT) for MPS type I patients to assess the challenges faced for further improvement of the process. Patients and methods The diagnosis of MPS type 1 was based on clinical examination, radiological findings, quantitation of GAGs in urine, electrophoretic separation of GAGs and alpha-L-iduronidase enzyme assays. After ministry approval to start ERT, thirty-eight MPS-I patients were examined at presentation and assessed for one year throughout ERT to evaluate its effect and safety. Initial and follow-up of quantitation of GAGs in urine, echocardiography, pulmonary function tests and abdominal ultrasound were done for cooperative compliant patients. Results Clinical and radiological examinations confirmed the diagnosis of MPS-1. Follow-up of patients after one year of ERT revealed a significant decrease in the size of the liver and spleen, an improvement in respiratory function tests, a stationary course of cardiac problems and a reduction in total urinary GAG levels. We faced the challenges of late diagnosis, long procedures to get approval for ERT, thus leading to delayed ERT initiation in addition to irregular 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. In conclusion: ERT is an effective line of management of MPS-I patients. Early diagnosis, less complicated process for treatment approval and efficient multidisciplinary centers able to provide ERT and hematopoietic stem cell transplantation (HSCT) are recommended. |
| format | Article |
| id | doaj-art-8079f843778e4d4fa47d0b4d4d37bf6a |
| institution | DOAJ |
| issn | 2090-2441 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj-art-8079f843778e4d4fa47d0b4d4d37bf6a2025-08-20T03:05:54ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412025-03-0126111410.1186/s43042-025-00668-wManagement of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experienceEkram Fateen0Sally A. F. El Sahrigy1Mona Ibrahim2Rasha M. Elhossini3Hoda H. Ahmed4Asmaa Esmail5Amira Radwan6Iman Ibrahim Salama7Abeer M. NourElDin Abd ElBaky8Nada Ezzeldin9Azza M. O. Abdel Rahman10Mona Aglan11Biochemical Genetics Department, Centre of Excellence for Human Genetics, Human Genetics and Genome Research Institute, National Research CentrePediatric Department, Centre of Excellence for Medical Research, Medical Research and Clinical Studies Institute, National Research CentreBiochemical Genetics Department, Centre of Excellence for Human Genetics, Human Genetics and Genome Research Institute, National Research CentreResearcher of Clinical Genetics, Human Genetics and Genome Research Institute, National Research CentrePediatric Department, Centre of Excellence for Medical Research, Medical Research and Clinical Studies Institute, National Research CentreClinical Genetics Department, Centre of Excellence for Human Genetics, Human Genetics and Genome Research Institute, National Research CentreBiochemical Genetics Department, Centre of Excellence for Human Genetics, Human Genetics and Genome Research Institute, National Research CentreCommunity Medicine Research Department, Medical Research and Clinical Studies Institute, National Research CentrePediatric Department, Centre of Excellence for Medical Research, Medical Research and Clinical Studies Institute, National Research CentreInternal Medicine Department, Centre of Excellence for Medical Research, Medical Research and Clinical Studies Institute, National Research CentrePediatric Department, Centre of Excellence for Medical Research, Medical Research and Clinical Studies Institute, National Research CentreClinical Genetics Department, Centre of Excellence for Human Genetics, Human Genetics and Genome Research Institute, National Research CentreAbstract Background Mucopolysaccharidosis type I (MPS I) is a known autosomal recessive lysosomal-storage disorder. The disease is caused by a deficiency of the alpha-L-iduronidase (IDUA) enzyme, accumulating the glycosaminoglycans (GAGs) in body organs and a wide phenotypic spectrum. Aim of the work: Herein, we report our experience, at the NRC, of enzyme replacement therapy (ERT) for MPS type I patients to assess the challenges faced for further improvement of the process. Patients and methods The diagnosis of MPS type 1 was based on clinical examination, radiological findings, quantitation of GAGs in urine, electrophoretic separation of GAGs and alpha-L-iduronidase enzyme assays. After ministry approval to start ERT, thirty-eight MPS-I patients were examined at presentation and assessed for one year throughout ERT to evaluate its effect and safety. Initial and follow-up of quantitation of GAGs in urine, echocardiography, pulmonary function tests and abdominal ultrasound were done for cooperative compliant patients. Results Clinical and radiological examinations confirmed the diagnosis of MPS-1. Follow-up of patients after one year of ERT revealed a significant decrease in the size of the liver and spleen, an improvement in respiratory function tests, a stationary course of cardiac problems and a reduction in total urinary GAG levels. We faced the challenges of late diagnosis, long procedures to get approval for ERT, thus leading to delayed ERT initiation in addition to irregular 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. In conclusion: ERT is an effective line of management of MPS-I patients. Early diagnosis, less complicated process for treatment approval and efficient multidisciplinary centers able to provide ERT and hematopoietic stem cell transplantation (HSCT) are recommended.https://doi.org/10.1186/s43042-025-00668-wMucopolysaccharidosis type I (MPS-I)ERTGlycosaminoglycans (GAGs)CardiovascularRespiratory function testsHepatomegaly |
| spellingShingle | Ekram Fateen Sally A. F. El Sahrigy Mona Ibrahim Rasha M. Elhossini Hoda H. Ahmed Asmaa Esmail Amira Radwan Iman Ibrahim Salama Abeer M. NourElDin Abd ElBaky Nada Ezzeldin Azza M. O. Abdel Rahman Mona Aglan Management of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experience Egyptian Journal of Medical Human Genetics Mucopolysaccharidosis type I (MPS-I) ERT Glycosaminoglycans (GAGs) Cardiovascular Respiratory function tests Hepatomegaly |
| title | Management of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experience |
| title_full | Management of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experience |
| title_fullStr | Management of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experience |
| title_full_unstemmed | Management of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experience |
| title_short | Management of mucopolysaccharidosis type I using enzyme replacement therapy: Egyptian experience |
| title_sort | management of mucopolysaccharidosis type i using enzyme replacement therapy egyptian experience |
| topic | Mucopolysaccharidosis type I (MPS-I) ERT Glycosaminoglycans (GAGs) Cardiovascular Respiratory function tests Hepatomegaly |
| url | https://doi.org/10.1186/s43042-025-00668-w |
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