Natural course of glutamine synthetase deficiency in a 3 year old patient

Mol Genet Metab. 2011 May;103(1):89-91. doi: 10.1016/j.ymgme.2011.02.001. Epub 2011 Feb 4.

Abstract

Glutamine deficiency with hyperammonemia due to an inherited defect of glutamine synthetase (GS) was found in a 2 year old patient. He presented neonatal seizures and developed chronic encephalopathy. Thus, GS deficiency leads to severe neurological disease but is not always early lethal.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases, Metabolic / enzymology*
  • Brain Diseases, Metabolic / genetics
  • Brain Diseases, Metabolic / pathology
  • Child, Preschool
  • Exanthema / pathology
  • Glutamate-Ammonia Ligase / deficiency*
  • Glutamate-Ammonia Ligase / genetics
  • Humans
  • Hyperammonemia / diagnosis
  • Hyperammonemia / enzymology
  • Hyperammonemia / pathology
  • Male
  • Mutation / genetics

Substances

  • Glutamate-Ammonia Ligase