title: Acute myelogenous leukemia and glycogen storage disease 1b.
abstract: Glycogen storage disease 1b (GSD 1b) is caused by a deficiency of glucose-6-phosphate translocase and the intracellular accumulation of glycogen. The disease presents with failure to thrive, hepatomegaly, hypoglycemia, lactic acidosis, as well as neutropenia causing increased susceptibility to pyogenic infections. We present a case of a young woman with GSD 1b who developed acute myelogenous leukemia while on long-term granulocyte colony-stimulating factor therapy. The presence of two rare diseases in a single patient raises suspicion that GSD 1b and acute myelogenous leukemia are linked. Surveillance for acute myelogenous leukemia should become part of the long-term follow-up for GSD 1b.
authors.affiliation: Department of Pediatrics, University of Virginia Children's Medical Center, Room 2010, MR-4 Building, 300 Lane Road, Charlottesville, VA 22908-0386, USA. mnp3h@virginia.edu
authors.forename: Maury
authors.initials: M
authors.lastname: Pinsk
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Burzynski
authors.forename: Margaret
authors.initials: M
authors.lastname: Yhap
authors.forename: Robert B
authors.initials: RB
authors.lastname: Fraser
authors.forename: Brian
authors.initials: B
authors.lastname: Cummings
authors.forename: Micheline
authors.initials: M
authors.lastname: Ste-Marie
mesh_terms: D005260:Female; D005953:Glycogen Storage Disease Type I / Q000150:complications* / Q000000981:diagnostic imaging / Q000188:drug therapy*; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000150:complications* / Q000000981:diagnostic imaging / Q000188:drug therapy*; D011877:Radionuclide Imaging; D019275:Radiopharmaceuticals; D011994:Recombinant Proteins; D019690:Technetium Tc 99m Exametazime
chemical_list: D019275:Radiopharmaceuticals; D011994:Recombinant Proteins; D016179:Granulocyte Colony-Stimulating Factor; D019690:Technetium Tc 99m Exametazime