Glycogen storage disease type Ia in two littermate Maltese puppies.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Brix, AE; Howerth, EW; McConkie-Rosell, A; Peterson, D; Egnor, D; Wells, MR; Chen, YT

Published Date

  • September 1995

Published In

Volume / Issue

  • 32 / 5

Start / End Page

  • 460 - 465

PubMed ID

  • 8578635

International Standard Serial Number (ISSN)

  • 0300-9858

Digital Object Identifier (DOI)

  • 10.1177/030098589503200502


  • eng

Conference Location

  • United States