Congenital glutamine deficiency with glutamine synthetase mutations.
Rose
Christopher
C
Jalan
Rajiv
R
D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D000641:Ammonia / Q000097:blood*; D020739:Brain Diseases, Metabolic, Inborn / Q000378:metabolism*; D005974:Glutamate-Ammonia Ligase / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*; D005973:Glutamine / Q000172:deficiency* / Q000378:metabolism; D006801:Humans; D009154:Mutation
D005973:Glutamine; D000641:Ammonia; D005974:Glutamate-Ammonia Ligase