Description of Individual Course Units
Course Unit CodeCourse Unit TitleType of Course UnitYear of StudySemesterNumber of ECTS Credits
300005372015BIOCHEMISTRY OF INHERITED METABOLIC DISEASESElective593
Level of Course Unit
First Cycle and Second Cycle
Language of Instruction
Objectives of the Course
The course aims to provide students with knowledge about the mechanisms of hereditary diseases, screening methods, laboratory tests and treatment methods that result from the deficiencies of enzymes and proteins in biochemical and metabolic pathways that affect protein, fat and carbohydrate metabolism.
Name of Lecturer(s)
Prof. Dr. N. Aysun Pabuççuoğlu
Learning Outcomes
1Being able to comprehend the general features and general laboratory findings of inherited metabolic diseases
2Being able to have knowledge about prenatal tests of inherited metabolic diseases
3Being able to have knowledge about newborn screening tests related to the most common hereditary diseases in our country
4Being able to have knowledge about inherited diseases caused by enzyme and protein deficiencies related to carbohydrate, fat and protein metabolism
5Being able to comprehend specific laboratory tests related to these diseases
6Being able to have knowledge about current treatment methods of hereditary diseases
Mode of Delivery
Face to Face
Prerequisites and co-requisities
There is no prerequisite.
Recommended Optional Programme Components
Course Contents
General information about inherited disorders, general laboratory findings, prenatal diagnosis and newborn screening in hereditary diseases. Amnio acids disorders, Organic acidemias, Disorders of fatty acid oxidation, Urea cycle disorders, Disorders of carbohydrate metabolism, Mitochondrial disorders, Lysosomal storage diseases; Mucopolysaccharidoses, Sphingolipidosis, Peroxysomal diseases, Disorders of purine and pyrimidine metabolism
Weekly Detailed Course Contents
WeekTheoreticalPracticeLaboratory
1Introduction and general information, general features of inherited metabolic diseases, heredity types, and general laboratory findingsNoneNone
2Amino acid metabolism disorders ( Phenylketonuria,Tyrosinemia, Alcaptonuria, Albinism)NoneNone
3Amino acid metabolism disorders (Cystinuria, Homocysytinuria, Maple syrup urine disease)NoneNone
4Organic acidemias ( Malonic aciduria, Multipl carboxylase deficiency, Holocarboxylase synthase deficiency, Biotinidase deficiency)None None
5Disorders of fatty acid oxidation (Carnitine palmitoyltransferase I and II deficiency, Carnitin translocase deficiency)NoneNone
6Urea cycle disordersNone None
7Disorders of carbohydrate metabolism (Galactosemia, Glycogen storage diseases, Inherited fructose intolerance, Aldolase B deficiency)NoneNone
8Mitochondrial disordersNoneNone
9Lysosomal storage diseases (Mucopolysaccharidosis)NoneNone
10Lysosomal storage diseases (Sphingolipidosis)NoneNone
11Peroxysomal disordersNoneNone
12Disorders of purine and pyrimidine metabolismNoneNone
13Lipoprotein metabolism disordersNoneNone
14Clinical casesNoneNone
Recommended or Required Reading
Lecture notes. Biomarkers in Inborn Errors of Metabolism: Editors: Uttam Garg, Laurie D. Smith, Elsevier Inherited Metabolic Diseases: Editors: George F. Hoffmann, Johannes Zschocker, William L. Nyhan, Springer
Planned Learning Activities and Teaching Methods
Assessment Methods and Criteria
Term (or Year) Learning ActivitiesQuantityWeight
Midterm Examination1100
SUM100
End Of Term (or Year) Learning ActivitiesQuantityWeight
Final Sınavı1100
SUM100
Term (or Year) Learning Activities40
End Of Term (or Year) Learning Activities60
SUM100
Work Placement(s)
Workload Calculation
ActivitiesNumberTime (hours)Total Work Load (hours)
Midterm Examination111
Final Examination111
Attending Lectures14228
Self Study5210
Individual Study for Mid term Examination11515
Individual Study for Final Examination12525
Reading4312
Performance339
TOTAL WORKLOAD (hours)101
Contribution of Learning Outcomes to Programme Outcomes
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LO2242445544435533444335
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LO53444455534343344444 5
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* Contribution Level : 1 Very low 2 Low 3 Medium 4 High 5 Very High
 
Ege University, Bornova - İzmir / TURKEY • Phone: +90 232 311 10 10 • e-mail: intrec@mail.ege.edu.tr