Management of MPS-I using ERT: The Egyptian experience

AbstractBackground 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.