Human Biochemical Genetics

Course Outline: (34 hours)

Contents:

1. Introduction: background, definitions, Mendel’s & Galton’s principles

2. Genes and enzymes (one gene–one enzyme hypothesis, gene and enzyme in human, study of enzymatic defects

3. Congenital defects in the metabolism of amniotic acids (e.g., albinism, alkaptonuria, homocystinuria, tyrosinemia, cystinuria, cystinosis

4. Disorders related to carbohydrates, such as galactosemia, hypolactasia, hereditary fructose intolerance, fructosis, diabetes

5. Defects related to protein transfer, such as defects in transfer system of familial hypercholesterolaemia, vitamin D-resistant rickets

6. Diseases related to lysosomal storage defect

7. Mucopolysaccharides

8. Diseases related to urea cycle

9. Defects related to the metabolism of lipids

10. Defects related to proenzyme

11. Screening and prenatal diagnosis of biochemical diseases 

12. Treatment of hereditary metabolic diseases

13. Hemoglobin and related diseases

14. Thalassemia and similar diseases, diagnosis of diseases related to hemoglobin

15. Pharmacogenetics