The long term goal is to devise new strategies for the treatment of nutritional diseases such as diabetes and specific inborn errors of energy metabolism.
The specific aims : 1) to characterize the pharmacokinetics, metabolism, and safety of 1,3- butanediol diacetoacetate (ketone esters) in humans and its usefulness in patients suffering from pathologies which could be alleviated by therapeutic ketosis. 2) to devise a non-invasive clinical test to assess the activity ratio of pyruvate carboxylase; pyruvate dehydrogenase in the liver of normal subjects and of children with inborn errors of pyruvate metabolism or diabetes. The labeled pyruvate studies have just begun with 2 studies in normal volunteers without any untoward events.
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