A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management

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  • Zhou Jing
    Laboratory for Reproductive Immunology, Hospital & Institute of Obstetrics and Gynecology, Shanghai Medical College, Fudan University, Shanghai, China. The Academy of Integrative Medicine of Fudan University, Shanghai, China. Shanghai Key Laboratory of Female Reproductive Endocrine-related Diseases, Shanghai, China.
  • Leung Wing Ting
    Laboratory for Reproductive Immunology, Hospital & Institute of Obstetrics and Gynecology, Shanghai Medical College, Fudan University, Shanghai, China. The Academy of Integrative Medicine of Fudan University, Shanghai, China. Shanghai Key Laboratory of Female Reproductive Endocrine-related Diseases, Shanghai, China.
  • Lin Jing
    Laboratory for Reproductive Immunology, Hospital & Institute of Obstetrics and Gynecology, Shanghai Medical College, Fudan University, Shanghai, China. The Academy of Integrative Medicine of Fudan University, Shanghai, China. Shanghai Key Laboratory of Female Reproductive Endocrine-related Diseases, Shanghai, China.
  • Wang Ling
    Laboratory for Reproductive Immunology, Hospital & Institute of Obstetrics and Gynecology, Shanghai Medical College, Fudan University, Shanghai, China. The Academy of Integrative Medicine of Fudan University, Shanghai, China. Shanghai Key Laboratory of Female Reproductive Endocrine-related Diseases, Shanghai, China.

Bibliographic Information

Published
2020-02-29
DOI
  • 10.5582/irdr.2020.01011
Publisher
International Research and Cooperation Association for Bio & Socio-Sciences Advancement

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Description

<p>Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage diseases (LSD) with multi-organic and severe symptoms. MPS occur worldwide in various forms though have relative a low incidence. The prevalent type of MPS varies among different continents, indicating that it may be associated with region and ethnic background. Undegraded glycosaminoglycans (GAGs) induced by deficiency of enzymes are the primary cause of MPS. Clinical features differ depending on the specific enzyme deficiency including coarse facial features, cognitive retardation, hepatosplenomegaly, hernias, kyphoscoliosis, corneal clouding, etc. Symptoms of different types are usually similar especially MPS I and II, but may have distinguishable features such as severe neurological problems in MPS III and hydrops fetails in MPS VII. These clinical features contribute to diagnosis, but early and precisely diagnosis in the asymptomatic stage is imperative for better outcomes. Novel approaches including urinary and blood GAG test, enzyme assay and gene test help to diagnose MPS and to determine its subtype. Hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) are conventional treatment for MPS, but are not effective at treating all MPS. Newer threatments, such as advanced ERT, gene therapy and substrate reduction therapy (SRT), improve therpeutic efficacy. In this review, we update information on the clinical manifestations, diagnosis, and treatment of the different forms of this disease in the hopes of stimulating further interest in MPS.</p>

Journal

  • Intractable & Rare Diseases Research

    Intractable & Rare Diseases Research 9 (1), 1-9, 2020-02-29

    International Research and Cooperation Association for Bio & Socio-Sciences Advancement

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