Clinical Biochemical Genetics (RGN_037)
About Study Course
Objective
To introduce the medical genetics resident to the indications, methods, and evaluation of results of genetic biochemical testing. Amino acid and organic acid screening for genetic pathology. Disorders of mucopolysaccharide, carbohydrate, fatty acid metabolism. Medical genetic counselling in case of an acute metabolic crisis.
Learning outcomes
1.- Classification and molecular basis of inherited metabolic diseases.
- Diagnosis and treatment of inherited metabolic diseases.
- To know the tests available for metabolic diseases.
- Acute conditions associated with inherited metabolic diseases, recognition, investigation and treatment thereof.
- Diagnosis and treatment of hyperammonemia.
- Newborn screening.
- Symptoms, diagnosis and treatment options for mitochondrial pathology.
1.- To take a clinical and family medical history.
- To examine the patient, evaluate the neurological status.
- To prescribe and explain appropriate biochemical and genetic tests.
- To prescribe pharmacotherapy, diet.
1.After successful completion of the study course, the medical genetics resident has acquired the mandatory competence.
1. Recognises the symptoms of a disease, leading to a working hypothesis.
2. Is able to make a differential diagnosis and prepare an appropriate biochemical and genetic testing plan.
3. Recognises acute conditions in inherited metabolic diseases. Is able to provide emergency care and treatment if available.
4. To initiate treatment in patients with inherited metabolic diseases.
5. Is able to make timely and appropriate onward referrals of patients to specialists.
6. To provide dynamic monitoring for patients with very rare and severe diseases.
