INHERITED METABOLIC DISORDERS
- Course
- MDCN003 - INHERITED METABOLIC DISORDERS
- Department
- Faculty of Medicine
- Course Type
- Course
- Status
- Required
- Language
- English
- Credit
- 0
- ECTS
- 2
- T+P+L
- 2 + 0 + 0
- Course Coordinator(s)
- -
- Prerequisite
- -
Course Description
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.
INHERITED METABOLIC DISORDERS
Evaluation Tools (Active Term)
No evaluation items have been defined.
Course outcomes
No course outcomes have been defined yet.
Course Syllabus
| Week | Topic |
|---|---|
| Week 1 | Giriş: Kalıtımsal Metabolik Hastalıklar |
| Week 2 | Hiperfenialaninemi ve Hipertirozinemi |
| Week 3 | Ornitin Transkarbomoilaz Eksikliği ve Orotik Asidüri |
| Week 4 | Piruvat Dehidrogenaz Eksikliği |
| Week 5 | Lizinürik Protein İntoleransı ve Hartnup Hastalığı |
| Week 6 | Gözden geçirme |
| Week 7 | Ara sınav |
| Week 8 | Ara sınav |
| Week 9 | Lizozomal Depo Hastalıkları |
| Week 10 | Glikojen Depo Hastalıkları |
| Week 11 | Organik Asidüriler |
| Week 12 | Öğrenci Sunumları |
| Week 13 | Öğrenci Sunumları |
| Week 14 | Öğrenci Sunumları |
| Week 15 | Öğrenci Sunumları |
Reference Books & Course Materials
- 01 ClinicalKey (https://www.clinicalkey.com/#!/)
Learning Outcomes
No learning outcomes have been defined.
Program Outcomes
No program outcomes have been defined.
Po-Lo Matrix
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