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Updated: Feb 28, 2026
09:24
Mucin Agarose Gel Electrophoresis: Western Blotting for High-molecular-weight Glycoproteins
Published on: June 14, 2016
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Open issues in Mucopolysaccharidosis type I-Hurler.
Rossella Parini1, Federica Deodato2, Maja Di Rocco3
1UOS Malattie Metaboliche Rare, Clinica Pediatrica dell'Università Milano Bicocca, Fondazione MBBM, ASST Monza e Brianza, Monza, Italy. rossella.parini@unimib.it.
Orphanet Journal of Rare Diseases
|June 17, 2017
Summary
Mucopolysaccharidosis I-Hurler (MPS I-H) is a severe genetic disease. Early diagnosis and improved management strategies, including newborn screening and multidisciplinary care, are crucial for better patient outcomes.
Area of Science:
- Genetics and Metabolic Disorders
- Hematology and Immunology
- Pediatric Medicine
Background:
- Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a lysosomal storage disease caused by IDUA gene mutations.
- It leads to progressive multisystem morbidity, including neurological decline, airway obstruction, skeletal deformities, and cardiomyopathy.
- Allogeneic hematopoietic stem cell transplantation (HSCT) is the current standard treatment for young MPS I-H patients, offering high success rates.
Purpose of the Study:
- To review critical issues in the management of MPS I-H.
- To highlight the need for early diagnosis, novel treatments, and improved follow-up strategies.
- To emphasize the importance of multidisciplinary care and standardized protocols.
Main Methods:
- Review of current literature on MPS I-H diagnosis and treatment.
- Analysis of the role of HSCT and enzyme replacement therapy (ERT).
- Discussion of emerging strategies like newborn screening and biochemical markers.
Main Results:
- HSCT is effective in young patients but long-term outcomes vary, with residual disease burden persisting.
- Enzyme replacement therapy (ERT) can ameliorate conditions and improve HSCT outcomes.
- Early diagnosis and timely referral to specialized centers are critical for successful management.
Conclusions:
- Improved awareness among healthcare providers is essential for early referral.
- Development of sensitive biochemical markers is needed for severity assessment and therapy comparison.
- Long-term neuropsychological follow-up and standardized multidisciplinary care are vital for optimizing patient outcomes.
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