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Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations

✍ Scribed by Bert E. Bachrach; David A. Weinstein; Marju Orho-Melander; Anne Burgess; Joseph I. Wolfsdorf

Book ID: 117848098
Publisher: Elsevier Science
Year: 2002
Tongue: English
Weight: 58 KB
Volume: 140
Category: Article
ISSN: 1097-6833
DOI: 10.1067/mpd.2002.124317

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Three novel mutations, Q54P, W70X and T108I, were identified in the gene encoding glucose-6phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, was