title: Glycogen storage disease type Ia in two littermate Maltese puppies.
abstract: Glycogen storage disease type Ia (GSD-Ia) (von Gierke's disease) was identified in two 47-day-old littermate Maltese puppies. The puppies were presented for necropsy with a history of failure to thrive, mental depression, and poor body condition. Gross findings included small body size and emaciation (212 and 246 g versus 595 g for normal littermate), severely enlarged pale livers (48 and 61 g), and pale kidneys. Histologically, there was marked diffuse vacuolation of hepatocytes with large amounts of glycogen and small amounts of lipid. Renal tubular epithelium was mildly to moderately vacuolated. Soft tissue mineralization was present in renal tubules and pulmonary alveolar septa. Biochemical analysis showed that levels of glucose-6-phosphatase were markedly reduced in liver (0.3 and 0.4 microM/minute/g tissue versus 4.7 +/- 1.5 microM/minute/g tissue for controls) and kidney (0.45 and 0.4 microM/minute/g tissue versus 4.1 microM/minute/g tissue for controls) and that glycogen content was increased in liver (9.4% and 9.4% versus 1.3% +/- 1.4% for controls). This is the first confirmed report of animals with glycogen storage disease type Ia.
authors.affiliation: Department of Pathology, College of Veterinary Medicine, University of Georgia, Athens, USA.
authors.forename: A E
authors.initials: AE
authors.lastname: Brix
authors.forename: E W
authors.initials: EW
authors.lastname: Howerth
authors.forename: A
authors.initials: A
authors.lastname: McConkie-Rosell
authors.forename: D
authors.initials: D
authors.lastname: Peterson
authors.forename: D
authors.initials: D
authors.lastname: Egnor
authors.forename: M R
authors.initials: MR
authors.lastname: Wells
authors.forename: Y T
authors.initials: YT
authors.lastname: Chen
mesh_terms: D000818:Animals; D001827:Body Height / Q000502:physiology; D004283:Dog Diseases / Q000473:pathology*; D004285:Dogs; D004848:Epithelium / Q000473:pathology; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000378:metabolism; D006003:Glycogen / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis / Q000378:metabolism / Q000662:veterinary*; D007668:Kidney / Q000473:pathology; D007684:Kidney Tubules / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D006005:Phosphorylases / Q000378:metabolism
chemical_list: D006003:Glycogen; D005954:Glucosephosphate Dehydrogenase; D006005:Phosphorylases