[Glycogenoses type 1b and 1c]

Pediatrie. 1988;43(8):661-5.
[Article in French]

Abstract

In type 1 glycogen storage diseases, glucose-6-phosphatase may be present but associated with impaired transport of glucose-6-phosphate (type 1b) or inorganic phosphate (type 1c) through microsomal membranes. The type 1c is very rare (2 published cases). The more frequent type 1b presents all the clinical manifestations of type 1a and specific signs: recurrent stomatitis, frequent infections, chronic inflammatory bowel disease secondary to neutropenia and neutrophil dysfunction. Glucose-6-phosphatase activity is low when measured on fresh liver tissue, but is restored after detergent treatment. A good metabolic control does not influence neutropenia and its consequences.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Glycogen Storage Disease Type I* / classification
  • Glycogen Storage Disease Type I* / complications
  • Glycogen Storage Disease Type I* / enzymology
  • Glycogen Storage Disease Type I* / therapy
  • Humans
  • Neutropenia / etiology