Uric Acid Metabolism and Disorders скачать в хорошем качестве

Uric Acid Metabolism and Disorders

This text explores the biochemistry and clinical impact of uric acid metabolism, specifically focusing on the synthesis and breakdown of purine nucleotides. It details how metabolic imbalances lead to hyperuricaemia and gout, conditions characterized by the painful accumulation of urate crystals in joints and kidneys. A significant portion of the material examines Lesch–Nyhan syndrome, a rare genetic disorder caused by an enzyme deficiency that results in severe neurological issues and self-injurious behavior. The source also covers diagnostic procedures, such as measuring serum urate levels, and various management strategies including dietary changes and pharmacological interventions like allopurinol. Finally, it contrasts these conditions with hypouricaemia and pseudogout, providing a comprehensive overview of purine-related pathologies.