- Author
-
S.C.M. Nijmeijer
- Title
- Mucopolysaccharidosis type III
- Subtitle
- Novel insights and challenges
- Supervisors
-
F.A. Wijburg
- Co-supervisors
-
L. Haverman
- Award date
- 24 January 2020
- Number of pages
- 247
- ISBN
- 9789463756358
- Document type
- PhD thesis
- Faculty
- Faculty of Medicine (AMC-UvA)
- Abstract
-
Mucopolysaccharidosis type III, also known as MPS III or Sanfilippo syndrome, is a lysosomal storage disorder with an autosomal recessive (AR) inheritance pattern. MPS III is part of the mucopolysaccharidoses (MPSs), a group of seven different genetic disorders, all accumulating different types of glycosaminoglycans (GAGs). MPS III is caused by an enzyme deficiency of one of the four lysosomal enzymes involved in the degradation of the GAG heparan sulfate (HS). The four enzymes correspond with the four different subtypes: MPS IIIA (heparan N-sulfatase; SGSH), MPS IIIB (N-α-acetylglucosaminidase; NAGLU), MPS IIIC (acetyl CoA:α-glucosaminide N-acetyltransferase; HGSNAT), and MPS IIID (N-acetylglucosamine 6-sulfatase; GNS). Clinically, these subtypes are indistinguishable.
This thesis comprises a number of studies aiming to improve knowledge about the MPS III disease course and the phenotypic spectrum, to provide insights in the attitudes towards preconception expanded carrier screening and the psychosocial well-being of parents of MPS III patients, and finally, to provide an overview of possible future therapies, highlighting the challenges. - Persistent Identifier
- https://hdl.handle.net/11245.1/1dff40bc-32a9-45e3-9897-de6eac0a62f9
- Downloads
-
Thesis (complete)
Front matter
Chapter 1: General introduction and outline of this thesis
Chapter 2: Prediction of phenotypic severity in mucopolysaccharidosis type IIIA
Chapter 3: The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
Chapter 4: Cardiac disease in mucopolysaccharidosis type III
Chapter 5: Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism
Chapter 6: Attitudes of family members of mucopolysaccharidosis type III patients towards preconception expanded carrier screening for the general population
Chapter 7: Psychosocial functioning in parents of MPS III patients
Chapter 8: Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I
Chapter 9: Mucopolysaccharidosis type III: current clinical trials, challenges and recommendations
Chapter 10: Discussion
Chapter 11: Summary
List of co-authors; List of publications; PhD portfolio; Curriculum vitae; Dankwoord
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