glutaminase and Metabolism--Inborn-Errors

Topics: Acyltransferases; Adult; Amino Acids; Animals; Cysteine; Dipeptidases; gamma-Glutamylcyclotransferase; gamma-Glutamyltransferase; Glutamates; Glutaminase; Glutamine; Glutathione; Glycine; Humans; Kidney; Male; Metabolism, Inborn Errors; Peptide Synthases; Pyroglutamate Hydrolase; Pyrrolidonecarboxylic Acid; Transaminases

Topics: Anemia, Pernicious; Antibodies; Aspirin; Feces; Galactosidases; gamma-Globulins; Gastric Juice; Gastrins; Gastrointestinal Diseases; Glutaminase; Humans; Intestinal Absorption; Intestinal Diseases; Intestines; Metabolism, Inborn Errors; Pancreatic Diseases; Pancreatitis; Radiography; Radionuclide Imaging; Triglycerides

Topics: Agammaglobulinemia; Alanine Transaminase; Aspartate Aminotransferases; Aspartic Acid; Blood Glucose; Cholesterol; De Lange Syndrome; Glutamates; Glutaminase; Humans; Immunoglobulin A; Immunoglobulin G; Ketoglutaric Acids; Metabolism, Inborn Errors; Phospholipids

Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Biological Transport; Blood Cell Count; Blood Glucose; Blood Urea Nitrogen; Bone Diseases; Brain Diseases; Dietary Proteins; Female; Glutaminase; Glutamine; Hemoglobins; Humans; Intellectual Disability; Kidney; Kidney Function Tests; Lysine; Metabolism, Inborn Errors; Nitrogen; Proteins; Specific Gravity; Urea; Urine

Topics: Adult; Ammonia; Female; Glutaminase; Humans; In Vitro Techniques; Leukocytes; Metabolism, Inborn Errors; Proteins

In four persons of one family the existence of an enzymatic defect, presumably consisting of a deficiency of glutaminase in the cells of the renal tubules, is postulated, and is implied by a reduced elimination of ammonia in the urine, by a relatively low urinary pH, and by its increased titratable acidity. The most characteristic clinical symptom is irritation of the distal part of the urinary tract, connected with numerous crystals of uric acid appearing in the urinary sediment. The elimination of uric acid is normal, or even reduced, and the level of uric acid in the blood serum is also within normal limits. After the administration of glutaminic acid elimination of ammonia is further decreased and the quantity of uric acid crystals is increased. Loading with glutaminic acid may also cause an attack of renal pain in the individual suffering from this defect but the administration of ammonium chloride does not cause any increase in ammonia production. It seems probable that the enzymatic defect is connected with the presence of antigen B in the erythrocytes and that it is inherited as a dominant autosomal feature. A suitable diet to make the urine alkaline allows kidneys to function efficiently in individuals suffering from this defect.

Topics: Erythrocytes; Glutaminase; Humans; Kidney; Kidney Calculi; Kidney Tubules; Metabolism, Inborn Errors; Uric Acid