Kingdom of Saudi Arabia
The National Commission for Academic Accreditation &
Assessment
Course Specification
METABOLIC AND GENETIC NUTRITIONAL
DISORDERS
(CLN 446)
Course Specification
Institution:
King Abdulaziz University
College/Department:
Faculty of Applied Medical Sciences
Department of Clinical Nutrition
A. Course Identification and General Information:
1. Course title and code:
Metabolic and Genetic Nutritional Disorders (CLN 446)
2. Credit hours:
3 hours
3. Program(s) in which the course is offered:
BSc in Clinical Nutrition
4. Name of faculty member responsible for the course:
Dr. Abdulnasser Helali / King Khalid National Guard Hospital
5. Level/year at which this course is offered:
7th Level / 4th Year
6. Pre-requisites for this course:
successfully completion of all third year courses
7. Co-requisites for this course (if any):
None
8. Location if not on main campus:
Main Campus
B. Objectives:
1. Summary of the main learning outcomes for students enrolled in the course:
After attending this course, students should be able to:
-Provide an expanded idea of molecular genetics including the structure of chromosomes in
the eukaryotic cell and the composition and function of genes.
-Understand genetic changes which take place in inherited diseases.
-Understand the role of dietetic therapy, screening, diagnosis and genetic counseling of
genetic and metabolic disorders.
C. Course Description:
First: Lectures Topics Timetable
No. of
weeks
Contact
Hours
1
2
1
2
1
2
1
2
1
2
1
2
1
2
1
2
1
2
1
2
- Organic acidemia: propionic acidemia / methyl malonic acidemia
1
2
- Amino acidopath's: phenylketonuria (PKU)
- Amino acidopath's: maple syrup urine disease (MSUD)
1
2
Lectures Topics to be covered
- Introduction and course overview
- Brief history of genetics
- Basic cell biology: overview of structure and function of genes and
chromosomes
- Origin of genetic variations
- Autosomal dominant and autosomal recessive inheritance
- Sex-linked inheritance and mitochondrial inheritance
- Variants of metabolism (inborn error of metabolism): prevalence and
inheritance of metabolic defects
- Defects of metabolic
processes METABOLIC DISORDERS
CARBOHYDRATE
- Metabolism of carbohydrates
- Glucose-6-phosphate dehydrogenase (G-6-PD)
- Galactosemia
- Hereditary fructose intolerance
- Glycogen storage disease
LIPID METABOLIC DISORDERS
- Metabolism and transport of lipids in the blood: chylomicrones /
cholesterol / triglycerides / VLDL, LDL, HDL
- Familial hypercholesterolemia
- Fatty acids oxidation and defects / ketone body's defects
- Cholesterol metabolism and related diseases
PROTEIN METABOLIC DISORDERS
- Metabolism of proteins: absorption and fate of amino acids inside cells
- Urea cycle / urea cycle disorders / hyperammonemia
- Screening, prenatal testing and diagnosis of inborn errors of
metabolism
1
2
- Genetic counselling of genetic and metabolic disorders
1
2
Second: Practicals Topics Timetable
No. of
weeks
Contact
Hours
- Introduction
1
2
- Case in autosomal dominant and autosomal recessive
inheritance
- Cases in sex-linked inheritance and mitochondrial inheritance
1
2
- Cases in carbohydrate metabolic disorders
- Role of dietetic therapy in carbohydrate metabolism disorders
1
2
- Cases in carbohydrate metabolic disorders
- Role of dietetic therapy in carbohydrate metabolism disorders
1
2
- Cases in carbohydrate metabolic disorders
- Role of dietetic therapy in carbohydrate metabolism disorders
1
2
- Cases in carbohydrate metabolic disorders
- Role of dietetic therapy in carbohydrate metabolism disorders
1
2
- Cases in lipid metabolic disorders
- Role of dietetic therapy in lipid metabolism disorders
1
2
- Cases in lipid metabolic disorders
- Role of dietetic therapy in lipid metabolism disorders
1
2
- Cases in lipid metabolic disorders
- Role of dietetic therapy in lipid metabolism disorders
1
2
- Cases in lipid metabolic disorders
- Role of dietetic therapy in lipid metabolism disorders
1
2
- Cases in protein metabolic disorders
- Role of dietetic therapy in protein metabolism disorders
1
2
- Cases in protein metabolic disorders
- Role of dietetic therapy in protein metabolism disorders
1
2
- Cases in protein metabolic disorders
- Role of dietetic therapy in protein metabolism disorders
1
2
- Cases in protein metabolic disorders
- Role of dietetic therapy in protein metabolism disorders
1
2
Practicals Topics to be covered
2. Course components (total contact hours per semester):
Lecture:
Tutorial:
Practical/Fieldwork/Internship:
Other:
30 hours
15 hours
30 hours
None
a. Knowledge:
(i) Description of the knowledge to be acquired:
- Understand structure and function of genes and chromosomes
- Understand genetic variation: mutation
- Understand autosomal dominant and autosomal recessive inheritance
- Understand sex-linked inheritance and mitochondrial inheritance
- Understand metabolism of carbohydrates
- Understand carbohydrate metabolic disorders (Glucose-6-phosphate dehydrogenase,
Galactosemia, Hereditary fructose intolerance, Glycogen storage disease ...etc)
-Apply dietetic therapy in carbohydrate metabolism disorders
- Understand metabolism and transport of lipids in the blood (Chylomicrones, Cholesterol,
Triglycerides, VLDL, LDL and HDL)
- Understand lipid metabolic disorders (Familial hypercholesterolemia, Fatty acids
oxidation and defects, Ketone body's defects, Cholesterol metabolism and related diseases
…etc)
-Apply dietetic therapy in lipid metabolism disorders
- Understand metabolism of proteins: absorption and fate of amino acids inside cells
- Understand protein metabolic disorders (Urea cycle / urea cycle disorders,
Hyperammonemia, Organic acidemia: propionic academia, Methyl malonic acidemia,
Amino acidopath's "phenylketonuria (PKU)", Amino acidopath's "maple syrup urine
disease (MSUD)" ...etc)
-Apply dietetic therapy in protein metabolism disorders
-Screen and diagnose genetic and metabolic disorders: neonatal and adults
-Understand genetic counselling of genetic and metabolic disorders
5. Schedule of Assessment Tasks for Students During the Semester
Assessment
Assessment task (eg. essay, test, group project,
examination etc.)
Week due
Proportion of
Final Assessment
Continuous assessment during semester
(40%)
1
Quiz 1
8
13%
2
Quiz 2
13
13%
3
Homework assignments & written reports
6 & 12
4%
4
Case study presentations
7
10%
Final Examination
(60%)
5
Final Practical Exam
15
20%
6
Final Written Exam
17
40%