title: Enzymatic screening of genetic diseases. (Including hyperammonemia).
abstract: The application of the techniques of clinical enzymology to the study of human biochemical genetics has laid the foundations for the practice of clinical genetics. In the study of inborn errors of metabolism of the urea cycle, these investigations have resulted in an understanding of the pathophysiology of hyperammonemia as well as delineating additional information on the molecular mechanisms of ammonia detosification. Insight has been obtained through recent investigations of another group of genetic disorders, hypercholesterolemia, which has resulted in opening new horizons relating to metabolic regulation of enzyme action through effector-receptor interactions at cell surfaces.
mesh_terms: D000641:Ammonia / Q000097:blood*; D001124:Argininosuccinate Synthase / Q000378:metabolism; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000172:deficiency / Q000378:metabolism; D002262:Carboxy-Lyases / Q000096:biosynthesis; D002784:Cholesterol / Q000096:biosynthesis; D004796:Clinical Enzyme Tests; D003584:Cytological Techniques; D003937:Diagnosis, Differential; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics; D008297:Male; D008664:Metal Metabolism, Inborn Errors / Q000175:diagnosis; D009954:Ornithine Carbamoyltransferase / Q000378:metabolism
chemical_list: D000641:Ammonia; D002784:Cholesterol; D009954:Ornithine Carbamoyltransferase; D002262:Carboxy-Lyases; D002222:Carbamoyl-Phosphate Synthase (Ammonia); D001124:Argininosuccinate Synthase