The Age Dependency of Clinical and Biochemical Parameters of Glycogen Storage Disease Type Ia and Glycogen Storage Disease Type Ib Patients

Peeks, F. (Fabian) (2016) The Age Dependency of Clinical and Biochemical Parameters of Glycogen Storage Disease Type Ia and Glycogen Storage Disease Type Ib Patients. thesis, Medicine.

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Abstract

Background – GSD I is a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase), and can be subdivided into GSD Ia and Ib. Most descriptions of the natural history of GSD I have been cross-sectional such as the ESGSDI study, which gives no information about age dependency of parameters. Methods –We performed a two-centre observational longitudinal retrospective study on the age dependency of clinical and biochemical parameters of 30 GSD I patients (20 GSD Ia and 10 GSD Ib). Of these parameters, age dependencies were quantified by equations and their 95% confidence intervals. Results –For height, weight, weight for height, BMI, liver size, renal size, lactate, uric acid, triglycerides and total cholesterol we have derived average polynomial equations with their standard deviation. Only liver size in the GSD Ia group did not show age dependency. Furthermore, we derived equations omitting pubertal values which simplified equations and indicated more direct correlations. Discussion – Differences between GSD I patients illustrate the heterogeneity of the disorders. Genetic and environmental factors influence the age dependency of parameters. For parameters that respond to poor dietary adherence, using equations that omit the pubertal values is useful. Furthermore, complications that seem to arise shortly after puberty could be the result of poor metabolic control. To improve current knowledge about GSD I, data may be collected in applications and international registries. The collected data can be used to provide algorithms for this application. Conclusion – We have derived age dependent equations that show the change of clinical and biochemical parameters over time on basis of which patients and their treatment can be evaluated.

Item Type:	Thesis (Thesis)
Supervisor name:	Faculty supervisor: and Derks, Dr Terry G.J. and Beatrix Children's Hospital, Section of Metabolic Diseases
Supervisor name:	Second supervisor: and Weinstein, Prof Dr David A. and Glycogen Storage Disease Program, Division of Paediatric End and Pediatrics, University of Florida
Faculty:	Medical Sciences
Date Deposited:	25 Jun 2020 10:41
Last Modified:	25 Jun 2020 10:41
URI:	https://umcg.studenttheses.ub.rug.nl/id/eprint/256

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