Proceedings of a consensus conference for the management of patients with urea cycle disorders

In an effort to develop standards for the treatment of patients with urea c ycle disorders, a consensus conference was held in Washington, DC, from Apr il 27-29, 2000. Conference participants included physicians, scientists, nu rses, dieticians, and a genetic counselor, all experts in their various med ical fields in these diseases. Representatives from the Food and Drug Admin istration and the National Urea Cycle Disorders Foundation, a parents suppo rt group, also participated in the conference. The goals set forth for the conference were to (1) reach a consensus on diagnostic and therapeutic guid elines for urea cycle disorders with the most up-to-date information and th e experience of experts in the field, (2) establish a collaborative network of health care professionals to advance the cause of patients with urea cy cle disorders in the areas of clinical management and research, and (3) pro vide help to health care providers in the recognition and management of the se complex disorders by publishing the proceedings of the conference in a w idely read journal. The articles that follow this introduction represent th e current state of knowledge on the topics addressed in the conference and a summary of the discussions that followed each of the presentations. With input from all the participants, we tried to cover those topics that were b elieved to be the most relevant both to the experts and to patients. As the reader will appreciate, many unresolved and controversial issues pertainin g to treatment have yet to be studied by rigorous scientific methods. On th e other hand, there are many issues on which the panel agreed. In many inst ances the availability of reliable information on the respective topics det ermined whether consensus could be reached.