The module introduces the student to:-
Clinical / Biochemical
Inborn errors of metabolism, basic genetic principles, screening, methods of treatment,
Understanding of selected disorders including Cholinesterase deficiency, amino acid disorders involving phenylalanine, tyrosine, methionine, and homocysteine. Renal tubule transport disorders cystinuria, Hartnup disease, organic acidurias, Glycogen storage disease, galactosaemia, erythrocyte defects, mucopolysaccharidoses, and cystic fibrosis.
Analytical / Managerial
Instrumentation and point of care testing, electrophoresis, effects of drugs on analytical methods,, finance and the NHS, writing papers/reports/business cases etc
- Demonstrate an advanced knowledge of the laboratory investigation of the sick neonate
- Demonstrate an understanding of genetics and the role of the laboratory as applied to single gene disorders
- Demonstrate an advanced understanding of the manner in which financial, operational and structural elements of Healthcare management impinge on the delivery of clinical biochemistry in a healthcare environment
- Demonstrate an advanced understanding of the principles and practice of an agreed range of analytical methods including point-of-care testing.












