Genetics of Inborn Errors of Metabolism

Recommended Prerequisites

Knowledge of biology, biochemistry in the pre graduate cycle of courses in the scope of Biomedical Sciences.

Teaching Methods

For theoretical and theoretical-practical classes, presentations of powerpoint, handouts / articles / or other material that the Lecturers understand to be the most appropriate, with theoretical contents related to the objectives of the UC. Joint sessions will be organized with discussion of clinical cases, among Clinical Specialists from different areas and Laboratory Specialists.

The test will be carried out according to the specific pedagogical objectives of the UC and the number of questions will be representative of the importance of the subject to be evaluated and the number of hours taught in each subject.

Learning Outcomes

Discuss and relate the role of Genetics in inherited metabolic diseases;
To acquire knowledge about the different techniques used in biochemical genetics.

To emphasize for the different techniques, the details of laboratory execution, their advantages, the objectives, their limitations and their applications for the diagnosis and research;
To analyze the most effective diagnostic strategy in different clinical settings;
To evaluate the importance of population screening in this context and the specifications of prenatal diagnosis of this type of genetic pathologies.

Work Placement(s)

No

Syllabus

General concepts of biochemical genetics, metabolic pathways and function of cellular organelles.
Laboratory strategies for the diagnosis of metabolic diseases, including lysosomal, peroxisome, mitochondrial, fatty acid metabolism and amino acid changes, changes in carbohydrate metabolism, changes involving different metals.

Clinical aspects of metabolic diseases and consequences of enzymatic defects and regulatory mechanisms.

Fundamentals of laboratory techniques applied to this area, including HPLC, electrophoresis, gas chromatography, fluorimetry, luminescence and immunochemical methods.

Principle of population screening for metabolic diseases - "teste do pézinho”

Prenatal diagnosis of metabolic diseases.

Head Lecturer(s)

Maria Joana Lima Barbosa Melo

Assessment Methods

Assessment
Students will have to solve and present problem cases and / or related topics, it will be assessed the content, communication skills and teamwork : 20.0%
The evaluation consists of a multiple-choice questions and/or others question types : 80.0%

Bibliography

Biomarkers in Inborn Errors of Metabolism, Clinical Aspects and Laboratory Determination, 1st Edition, 2017, Uttam Garg and Laurie Smith, ISBN 9780128028964
Artigos científicos originais e de revisão, atuais, no âmbito dos diferentes temas abordados na UC.