New Facets in Urea Cycle Disorders
It is a great pleasure to have so many participants at the symposium on Urea Cycle Diseases here in Okayama. Clinical, pathological and biochemical studies on metabolic disorders in the urea cycle, i.e., argininosuccinic aciduria, citrullinemia, ornithinemia, argininemia and hyperammonia have been pursued vigorously in the recent decade, and we are beginning now to at least understand some of the mechanisms of these disorders. In this symposium, additional new ideas on the origin of these diseases will be reported by many participants, and we are expecting to gather more exact information to clarify the pathogenesis. In addition to these disorders, a new clinical entity, N-acetylglutamate synthetase deficiency, will be introduced in detail by the discoverers themselves. Sparse-fur mutant mice have become a model for human ornithine transcarbamylase deficiency, and will contribute extensively to investigations of human diseases in the future.