Descriptor: "Glutamate-Ammonia Ligase deficiency" / Journal: new england journal of medicine - Searchworks@Jio Institute Digital Library Search Results

Author: Rose C and Jalan R
Subjects: Glutamate-Ammonia Ligase deficiency, Glutamate-Ammonia Ligase genetics, Glutamine metabolism, Humans, Mutation, Amino Acid Metabolism, Inborn Errors metabolism, Ammonia blood, Brain Diseases, Metabolic, Inborn metabolism, Glutamate-Ammonia Ligase metabolism, Glutamine deficiency
Published: 2006

Author: Häberle J, Görg B, Rutsch F, Schmidt E, Toutain A, Benoist JF, Gelot A, Suc AL, Höhne W, Schliess F, Häussinger D, and Koch HG
Subjects: Amino Acid Metabolism, Inborn Errors metabolism, Amino Acid Metabolism, Inborn Errors pathology, Brain pathology, Brain Diseases, Metabolic, Inborn metabolism, Brain Diseases, Metabolic, Inborn pathology, DNA Mutational Analysis, Fatal Outcome, Female, Glutamate-Ammonia Ligase deficiency, Glutamate-Ammonia Ligase metabolism, Humans, Infant, Newborn, Male, Amino Acid Metabolism, Inborn Errors genetics, Brain Diseases, Metabolic, Inborn genetics, Glutamate-Ammonia Ligase genetics, Glutamine deficiency, Point Mutation
Abstract: Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. We report on two unrelated newborns who had congenital human glutamine synthetase deficiency with severe brain malformations resulting in multiorgan failure and neonatal death. Glutamine was largely absent from their serum, urine, and cerebrospinal fluid. Each infant had a homozygous mutation in the glutamine synthetase gene (R324C and R341C). Studies that used immortalized lymphocytes expressing R324C glutamine synthetase (R324C-GS) and COS7 cells expressing R341C-GS suggest that these mutations are associated with reduced glutamine synthetase activity., (Copyright 2005 Massachusetts Medical Society.)
Published: 2005
Full Text: View/download PDF

Searchworks