This course is designed to provide students a basic knowledge about inherited metabolic disorders. The course aims to gain the students the knowledge necessary to understand the cause and effect relationship between genetic mutations and molecular basis of diseases. The course covers all clinically important metabolic pathways such as amino acid, nucleotide, urea cycle disorders, galactosemia/galactosuria, glycogen and lysosomal storage diseases. Phenylketonuria (PKU), Maple Syrup Disease, Ornithine Transcarbamoylase Deficiency, UDP-Galactose-4 Epimerase Deficiency (GALE), Lesch-Nyhan Syndrome, von Gierke’s Disease, McArdle’s Disease, Tays-Sachs Disease are included in this course. This course also focuses on the analytical and diagnostic tools using to reveal molecular markers of these diseases. This course consists of lectures enriched with cases and case discussion.
- Teacher: Ali Alkaleel
- Teacher: Halil Resmi