Liver glycogen synthase deficiency: A rarely diagnosed entity |
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Authors: | R Gitzelmann M A Spycher G Feil J Müller B Seilnacht M Stahl N U Bosshard |
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Institution: | (1) Division of Metabolic and Molecular Diseases, Department of Paediatrics, University of Zürich, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland;(2) Department of Pathology, University of Zürich, CH-8091 Zürich, Switzerland;(3) St. Franziskus-Hospital, D-48145 Münster, Germany;(4) Kinderklinik, Akademisches Lehrkrankenhaus der Albert Ludwigs-Universität Freiburg, D-79539 Lörrach, Germany |
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Abstract: | Three children from two German families are described and the observations compared with the previously published three families comprising eight patients. The two index cases presented with morning fatigue, had ketotic hypoglycaemia when fasting which rapidly disappeared after eating, and hepatic glycogen deficiency and absent or very low hepatic glycogen synthase activity. Metabolic profiles comprising glucose, lactate, alanine, and ketones in blood were typical for hepatic glycogen synthase deficiency. Symptoms were rapidly relieved and chemical signs corrected by introducing frequent protein-rich meals and night-time feedings of suspensions of uncooked corn (maize) starch. The discovery of oligosymptomatic and asymptomatic siblings suggests that there are more persons with undiagnosed hepatic glycogen synthase deficiency. |
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Keywords: | Glycogen deficiency Glycogen synthase Ketotic hypoglycaemia Corn (maize) starch Electron microscopy |
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