Inherited metabolic disorders

Details

Title

Inherited metabolic disorders

Type

Stage Two

Module code

HLS137

Requirement

Compulsory

Module objective

By the end of the training period trainees will, in respect of competencies in the clinical biochemistry of inherited metabolic disorders, be able to:

• analyse, synthesise, evaluate and apply knowledge
• perform a range of technical and clinical skills and procedures
• demonstrate the attitudes and behaviours necessary for professional practice as a consultant clinical scientist dealing with the complexities, uncertainties and tensions of professional practice at this level.

Knowledge and understanding

By the end of the training period the trainee will be able to demonstrate the ability to analyse, evaluate and synthesise relevant knowledge and its application to their professional practice in relation to:

• the pathophysiology and biochemical disturbances associated with the common inherited metabolic diseases such as glycogen storage diseases, urea cycle defects
• the causes, clinical presentation, investigation, diagnosis, monitoring and management of the common inherited metabolic diseases including glycogen storage diseases, urea cycle defects, amino acid disorders, organic acid disorders
• the principles of quantitative and qualitative enzyme abnormalities, the biochemical consequences of primary enzyme blocks in metabolic pathways and the consequential clinical and pathology signs in common inherited metabolic diseases
• the principles of detection screening, the methods of investigation and the evaluation of detection programmes in common inherited metabolic diseases
• the key principles and criteria for establishing effective screening programmes for inherited metabolic diseases
• the methods for the investigation, diagnosis and monitoring of disorders of amino acid metabolism, carbohydrate metabolism, cerebral lipidoses, fatty acid oxidation defects, disorders of metal metabolism, mitochondrial disorders, mucopolysaccharidoses, organic acid disorders, peroxisomal disorders, primary and secondary purine and pyrimidine disorders, transport defects and urea cycle disorders
• the pre-natal investigation of inherited metabolic diseases of the fetus
• the causes, investigation, diagnosis, monitoring and management of encephalopathy and hyperammonaemia
• the analysis of amino acids, organic acids, carnitine, acyl carnitines, enzyme assays, mucopolysaccharidoses, tissue culture and DNA in the investigation, diagnosis, monitoring and management of inherited metabolic diseases
• the presentation, investigation and mechanism of inheritance of the common inherited metabolic diseases like urea cycle defects, glycogen storage diseases, fatty acid oxidation defects, and phenylketonuria
• the principles of treatment of inherited metabolic diseases such as co-enzyme supplementation, enzyme inhibition and dietary manipulation
• the effects of inborn errors of metabolism/inherited metabolic diseases on routine biochemical tests
• the effects of metabolic stress on patients with in born errors of metabolism/inherited metabolic diseases such as phenylketonuria, fatty acid oxidation defects, glycogen storage disease and urea cycle defects.

Technical and clinical skills

By the end of the training period the trainee will be able to demonstrate a critical understanding of current relevant research, theory and knowledge and its application to the performance of the following technical procedures and laboratory skills:

• the technical aspects of investigation of inherited metabolic diseases
• the technical aspects of the investigations of pre- and neonatal screening for inherited metabolic diseases
• the appropriate specimens for the effective investigation of suspected inherited metabolic diseases like glycogen storage diseases, urea cycle defects, fatty acid oxidation defects, hyperammonaemia, hypoglycaemia
• the statistical and ethical issues surrounding pre- and neonatal screening
• the results of laboratory investigations derived from pre- and neonatal screening programmes.

Trainees are not expected to have an in-depth knowledge of all inherited metabolic diseases but should be aware of the major categories, common presentations, investigation, mechanism of inheritance, scope of pre and neonatal diagnosis and the principles of treatment for example via co-enzyme supplementation, enzyme inhibition and dietary manipulation.

By the end of the training period trainees will, in respect of the competencies in the clinical biochemistry of inherited metabolic disorders, be able to perform the clinical skills necessary to manage under supervision:

• appropriate specimen collection, specimen handling, investigation, diagnosis and monitoring of biochemical tests in inherited metabolic diseases
• the potential for the development of inherited metabolic diseases based on triggers of unusual patterns of results
• the principles and outcomes of effective pre- and neonatal screening programmes.