Glycogen storage disease types 0, VI, and IX in the differential diagnosis of idiopathic ketotic hypoglycemia of childhood

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Brown LM et al. Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. J Inherit Metab Dis. 2014 Jul 3. [Epub ahead of print]

In this study, Brown et al screened a population of children with seemingly idiopathic ketotic hypoglycemia for the “milder” glycogen storage disorders type 0, VI, and IX by DNA sequencing of the relevant genes. 164 children with recurrent ketotic hypoglycemia, a normal standard endocrine and metabolic work-up, and no hepatomegaly (or at least none detected on physical exam) were studied; patients do not, however, seem to have been routinely screened for postprandial hyperlactataemia, which might have oriented the investigation towards GSD 0 directly. Twelve percent of patients were diagnosed with a glycogen storage disorder (four GSD 0, two GSD VI, 12 GSD IX alpha, one GSD IX beta, one GSD IX gamma). Although the authors themselves point out the probable existence of a significant selection bias, this study underlines the importance of considering these glycogen storage disorders in the differential diagnosis of seemingly idiopathic ketotic hypoglycemia.

Posted by Alina Levtova, MD

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