Inborn Errors in Metabolism BCH 545

This course covers 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.
The main objective of this course is:
1. To provide knowledge about the biochemical aspects regarding disorders of carbohydrates , amino acids and their derivatives , and lipids metabolism
2. To familiarize students with knowledge about molecular, biochemical and cellular levels of inborn errors of metabolism, how to screen and the different types of treatment.

ملحقات المادة الدراسية