Advances in Human Genetics 6

Exploring the intricate relationship between vitamins and inherited metabolic disorders, this book delves into the biochemical roles of various vitamins, their genetic control, and the consequences of mutations on vitamin functions. It also examines specific conditions like Lesch-Nyhan Syndrome, hereditary hemolytic anemias due to glycolytic enzyme defects, and population genetics in regions such as Finland and Quebec. The text emphasizes clinical presentations, diagnostic approaches, and the implications of genetic disorders on healthcare delivery, making it a comprehensive resource for understanding metabolic genetics.