A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

J Inherit Metab Dis. 2006 Feb;29(1):224-5. doi: 10.1007/s10545-006-0146-x.

Abstract

We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Antiporters / genetics
  • Glycogen Storage Disease Type I / genetics*
  • Homozygote
  • Humans
  • Liver / enzymology
  • Male
  • Monosaccharide Transport Proteins / genetics
  • Mutation*
  • Neutropenia / diagnosis*
  • Neutropenia / genetics*
  • Neutrophils / metabolism
  • Neutrophils / pathology*
  • Phenotype

Substances

  • Antiporters
  • Monosaccharide Transport Proteins
  • glucose 6-phosphate(transporter)