University of Groningen
Glycogen Storage Disease type IIIa
Hoogeveen, Irene
DOI:
10.33612/diss.130704555
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Publication date:
2020
Link to publication in University of Groningen/UMCG research database
Citation for published version (APA):
Hoogeveen, I. (2020). Glycogen Storage Disease type IIIa: towards precision medicine. University of
Groningen. https://doi.org/10.33612/diss.130704555
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GLYCOGEN STORAGE
DISEASE TYPE IIIA
TOWARDS PRECISION MEDICINE
Copyright © 2020 Irene J. Hoogeveen
The research described in this thesis was conducted at the Department of Pediatrics, Section of Metabolic Diseases, University Medical Center Groningen, The Netherlands. This project was funded by the Junior Scientific Masterclass (JSM) Groningen, grant no 15-16. Parts of this thesis were funded by ‘Stofwisselkracht’ and ‘Metakids’.
The author gratefully acknowledges the financial support for printing this thesis by: Groningen University Institute for Drug Exploration (GUIDE)
University Medical Center Groningen (UMCG) University of Groningen (RUG)
Nutricia Nederland B.V. Vitaflo International Ltd.
ISBN (printed): 978-94-034-2522-1 ISBN (digital): 978-94-034-2521-4
Glycogen Storage Disease type IIIa
Towards precision medicine
Proefschrift
ter verkrijging van de graad van doctor aan de Rijksuniversiteit Groningen
op gezag van de
rector magnificus prof. dr. C. Wijmenga en volgens besluit van het College voor Promoties.
De openbare verdediging zal plaatsvinden op woensdag 6 mei 2020 om 11:00 uur
door
Irene Jolanda Hoogeveen geboren op 17 juni 1992
PROMOTOR
Prof. dr. F.J. van SpronsenCOPROMOTOR
Dr. T.G.J. DerksBEOORDELINGSCOMMISSIE
Prof. dr. B.M. BakkerProf. dr. mr. A.A.E Verhagen Prof. dr. R. Santer
PARANIMFEN
Willemijn J. van Rijt Fabian PeeksTABLE OF CONTENTS
Chapter 1 Introduction and thesis outline 9 Chapter 2 Natural history of GSDIIIa
a. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. Journal of Inherited Metabolic Disease 21 Chapter 3 Follow-up and monitoring of the individual GSDIIIa patient
a. Normoglycemic ketonemia as biochemical presentation in ketotic glycogen storage disease. JIMD reports 37 b. A preliminary study of telemedicine for patients with hepatic glycogen
storage disease and their healthcare providers: from bedside to home site monitoring. Journal of Inherited Metabolic Disease
49
c. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: a retrospective, single-center chart review of 128 patients. Submitted
65
Chapter 4 Alternative composition of - and energy substrates in dietary management a. Dietary lipids in hepatic glycogen storage diseases: a systematic literature
study, case studies and future recommendations. Journal of Inherited
Metabolic Disease
85
b. Effects of acute nutritional ketosis during exercise in adults with glycogen storage disease type IIIa are phenotype-specific: an investigator-initiated, randomized, crossover study. Submitted
135
Chapter 5 General discussion and future perspectives 163
Appendices Summary 184
Samenvatting voor de niet-medicus 187
Dankwoord 191
About the author 196
