Clinical, biochemical and genetic aspects of glycogen storage disease type IIISentner, C. P., 2017, [Groningen]: Rijksuniversiteit Groningen. 122 p.
Research output: Thesis › Thesis fully internal (DIV) › Academic
Glycogen storage disease type III (GSDIII) is an autosomal recessive inherited metabolic disease in which glycogen stores in the liver and (cardiac-) muscle tissue. There are two main subtypes, GSDIIIa (affecting the liver, heart and skeletal muscles) and GSDIIIb (only affecting the liver). GSDIII is a very rare disease and long-term experience is limited. In this thesis, we present data regarding the natural course, biochemical and genetic aspects, and secondary complications. We present a mutation analysis method (DGGE) which had not been previously applied to the (GSDIII-associated) AGL-gene. We applied it for a group of GSDIII-patients and described novel mutations and genotype-phenotype relationships. Also, we present the results of a multi-centre international retrospective study in the largest number of GSDIII-patients aiming to increase knowledge of diagnosis, course and complications. We further investigated hyperlipidaemia, which is a frequent complication in young GSDIII-patients, we found however that cholesterol and triglyceride levels normalize with age. Hyperlipidaemia at a young age does not increase the risk of developing artherosclerosis in GSDIII-patients. Furthermore, we describe the case of an adult GSDIIIa-patient in whom severe hypertrophic cardiomyopathy was reversed by low-calorie high-protein adjustments, preventing the need for cardiac transplantation. Finally, we measured muscle ultrasound density and muscle force in GSDIII-patients, which indicated myopathic changes from a young age onwards. In summary, this thesis presents a template for GSDIII-patients and treating physicians regarding the clinical course and secondary complications that may develop in the future.
|Qualification||Doctor of Philosophy|
|Place of Publication||[Groningen]|
|Publication status||Published - 2017|
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