Inborn Errors of Metabolism (BCH545)

This course covers the disorders of carbohydrate metabolism (pentosuria, diseases of fructose metabolism and glycogen storage diseases), amino acid metabolism (urea cycle disorders, lipid and steroid metabolism (lipoprotein deficiency and hyper-lipoproteinaemia, familial diseases of sterol metabolism), purine, pyrimidine, metals and porphyrin metabolism.