title: Natural course of glutamine synthetase deficiency in a 3 year old patient.
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.
authors.affiliation: University Children's Hospital Zurich, Division of Metabolism, 8032 Zürich, Switzerland. Johannes.Haeberle@kispi.uzh.ch
authors.forename: Johannes
authors.initials: J
authors.lastname: Häberle
authors.forename: Noora
authors.initials: N
authors.lastname: Shahbeck
authors.forename: Khalid
authors.initials: K
authors.lastname: Ibrahim
authors.forename: Georg F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: Tawfeg
authors.initials: T
authors.lastname: Ben-Omran
mesh_terms: D001928:Brain Diseases, Metabolic / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D005076:Exanthema / Q000473:pathology; D005974:Glutamate-Ammonia Ligase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis / Q000201:enzymology / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics
chemical_list: D005974:Glutamate-Ammonia Ligase