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| TBI6031 | Hereditary Metabolic Diseases | 2+0+2 | ECTS:7.5 | | Year / Semester | Spring Semester | | Level of Course | Third Cycle | | Status | Elective | | Department | DEPARTMENT of MEDICAL BIOLOGY | | Prerequisites and co-requisites | None | | Mode of Delivery | Face to face, Lab work | | Contact Hours | 14 weeks - 2 hours of lectures and 2 hours of laboratory per week | | Lecturer | Dr. Öğr. Üyesi Bayram TORAMAN | | Co-Lecturer | | | Language of instruction | Turkish | | Professional practise ( internship ) | None | | | | The aim of the course: | | The aim of this course is to inform the students about hereditary disorders of enzymes involved in cell metabolism, heredity patterns and mutation-function relations. |
| Programme Outcomes | CTPO | TOA | | Upon successful completion of the course, the students will be able to : | | | | PO - 1 : | Understand the types of small and large biomolecules and their basic metabolism | 1 | 1 | | PO - 2 : | Understand generaly the metabolism of carbohydrates, amino acids, lipids, and nucleic acids, and identify important inherited metabolic disorders. | 2 | | | PO - 3 : | Understand the general characteristics of genetically inherited metabolic disease | 8 | | | CTPO : Contribution to programme outcomes, TOA :Type of assessment (1: written exam, 2: Oral exam, 3: Homework assignment, 4: Laboratory exercise/exam, 5: Seminar / presentation, 6: Term paper), PO : Learning Outcome | | |
| 1. Biomolecules working in cell (small biomolecules and macromolecules)
2. General metabolic pathways of biomolecules (general view to metabolism)
3. Carbohydrate metabolism and related inherited metabolic diseases
4.Amino acid metabolism and related inherited metabolic diseases
5. Urea cycle diseases and related hereditary metabolic diseases
6. Heme metabolism and inherited porphyria
7. Fatty acid oxidation disorders
8. Peroxisomal disorders
9. Organic acid diseases
10. Disorders of steroid metabolism
11. Purine and pyrimidine metabolism disorders
12. Lysosomal storage diseases
13. Mitochondrial diseases
14. Vitamin and cofactor metabolism defects
15. Transport defects of copper and iron ions |
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| Course Syllabus | | Week | Subject | Related Notes / Files | | Week 1 | Biomolecules working in cell(small biomolecules and macromolecules) | | | Week 2 | General metabolic pathways of biomolecules (general view to metabolism) | | | Week 3 | Carbohydrate metabolism and related inherited metabolic diseases | | | Week 4 | Amino acid metabolism and related inherited metabolic diseases
Urea cycle diseases and related hereditary metabolic diseases | | | Week 5 | Heme metabolism and inherited porphyria
Fatty acid oxidation disorders | | | Week 6 | Peroxisomal disorders | | | Week 7 | Organic acid diseases | | | Week 8 | Basic genetic laboratory techniques | | | Week 9 | Midterm | | | Week 10 | Disorders of steroid metabolism | | | Week 11 | Purine and pyrimidine metabolism disorders | | | Week 12 | Student presentation
| | | Week 13 | Lysosomal storage diseases
Mitochondrial diseases | | | Week 14 | Vitamin and cofactor metabolism defects | | | Week 15 | Transport defects of copper and iron ions | | | Week 16 | Final Exam | | | |
| 1 | Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan (Eds.); Inherited Metabolic Diseases. A Clinical Approach, Springer-Verlag Berlin Heidelberg 2010 | | | |
| Method of Assessment | | Type of assessment | Week No | Date | Duration (hours) | Weight (%) | | Mid-term exam | 8 | | 2 | 30 | | Presentation | 12 | | 1 | 20 | | End-of-term exam | 16 | | 2 | 50 | | |
| Student Work Load and its Distribution | | Type of work | Duration (hours pw) | No of weeks / Number of activity | Hours in total per term | | Yüz yüze eğitim | 3 | 10 | 30 | | Sınıf dışı çalışma | 1 | 2 | 2 | | Laboratuar çalışması | 2 | 9 | 18 | | Arasınav | 2 | 1 | 2 | | Ödev | 2 | 5 | 10 | | Dönem sonu sınavı | 2 | 1 | 2 | | Total work load | | | 64 |
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