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Previous Volume 357:1507-1514 October 11, 2007 Number 15 Next

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SUMMARY

Storage of glycogen is essential for glucose homeostasis and for energy supply during bursts of activity and sustained muscle work. We describe three siblings with profound muscle and heart glycogen deficiency caused by a homozygous stop mutation (R462ter) in the muscle glycogen synthase gene. The oldest brother died from sudden cardiac arrest at the age of 10.5 years. Two years later, an 11-year-old brother showed muscle fatigability, hypertrophic cardiomyopathy, and an abnormal heart rate and blood pressure while exercising; a 2-year-old sister had no symptoms. In muscle-biopsy specimens obtained from the two younger siblings, there was lack of glycogen, predominance of oxidative fibers, and mitochondrial proliferation. Glucose tolerance was normal.

Source Information

From the Departments of Pathology (G.K., A.O.), Pediatrics (M.T., T.G., I.O.-S., G.F.), and Clinical Chemistry (E.H.), Sahlgrenska University Hospital, Gothenburg; and the Department of Pediatrics, Västerås Hospital, Västerås (P.J.) — both in Sweden.

Address reprint requests to Dr. Holme at the Department of Clinical Chemistry, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden, or at elisabeth.holme{at}clinchem.gu.se.

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