Glycogen Storage Disease IIIA Clinical Trial
Official title:
Acute Nutritional Ketosis and Exercise in Glycogen Storage Disease Type IIIa
The investigators will study if acute nutritional ketosis in adult GSD IIIa patients can boost muscle mitochondrial function in vivo.
Glycogen Storage Disease type IIIa (GSD IIIa) is an inborn error of carbohydrate metabolism
caused by impaired glycogen debranching enzyme (GDE) activity. The ageing GSD IIIa cohort
shows that muscle involvement -despite dietary management- is a common disabling phenotype in
adulthood. Currently, no specific therapy has been established for muscle problems in adult
GSD IIIa patients.
However, it could be hypothesized that nutritional ketosis (NK) will be highly beneficial to
patients. Amongst others, ketone bodies could take on the role of primary energy source in
exercising muscle. Recently, acute NK in exercise was studied in humans. NK was found to
enhance muscle mitochondrial function in athletes.
The investigators will study if acute NK in adult GSD IIIa patients can boost muscle
mitochondrial function in vivo.
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