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

Johannes Häberle; Noora Shahbeck; Khalid Ibrahim; Georg F Hoffmann; Tawfeg Ben-Omran

doi:10.1016/j.ymgme.2011.02.001

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.

Authors

Johannes Häberle¹, Noora Shahbeck, Khalid Ibrahim, Georg F Hoffmann, Tawfeg Ben-Omran

Affiliation

¹ University Children's Hospital Zurich, Division of Metabolism, 8032 Zürich, Switzerland. [email protected]

PMID: 21353613
DOI: 10.1016/j.ymgme.2011.02.001

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