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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Effect of growth hormone treatment on hypoglycemia in a patient with both hepatic glycogen synthase and isolated growth hormone deficiencies.

A 7 year-old boy presenting with growth retardation, fasting hypoglycemia and ketoacidosis was diagnosed as having both idiopathic growth hormone ( GH) deficiency and hepatic glycogen synthase (GS) deficiency caused by a homozygous mutation in exon 5 of the liver glycogen synthase gene (GYS-2). After four years of treatment with recombinant human GH, height increased from -4.9 SDS to -2.05 SDS which is near his target height of -1.6 SDS. The GH treatment, however, did not prevent the fasting hypoglycemia. Blood glucose levels were only normalized after avoiding fasting intervals of more than five hours and the frequent feeding of protein-rich meals according to the guidelines for treatment of hepatic GS deficiency.[1]


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