Human microsomal glucose-6-phosphatase system

Eur J Pediatr. 1993:152 Suppl 1:S2-6. doi: 10.1007/BF02072079.

Abstract

The discovery of glucose-6-phosphatase (EC 3.1.3.9) and of its physiological function in releasing glucose from the liver are discussed briefly. The identification by the Coris of glucose-6-phosphatase deficiency as the underlying defect in certain cases of glycogenosis (type I glycogenosis; von Gierke disease) is described. Characteristics of the catalyst, with a focus on its multiplicity of functions and multicomponent character, are considered with an emphasis on the human liver enzyme. Pioneering studies from the author's laboratory leading to the characterization of two variants of type I glycogenosis, types Ib and Ic, are described.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Glucose-6-Phosphatase / metabolism*
  • Glycogen Storage Disease Type I / classification
  • Glycogen Storage Disease Type I / enzymology*
  • Glycogen Storage Disease Type I / physiopathology
  • Humans
  • Microsomes, Liver / enzymology*

Substances

  • Glucose-6-Phosphatase