09:30          Metabolic emergencies in the A&E

Elaine Murphy

10:00          Using CSF as a diagnostic tool – neurotransmitter & other disorders

Simon Heales

10:30          Investigating rhabdomyolysis and muscle symptoms

Ros Quinlivan

11:00          COFFEE

11:30          Assaying enzyme activity

Derek Burke and Ralph Wigley

12:00          Lysosomal storage disorders

Robin Lachmann

12:30          Neurological disorders – when might it be ‘metabolic’

Ignacio Rubio-Agusti

13:00          LUNCH

13:45                    WORKSHOPS

A.                Simon Olpin                     Investigation & diagnosis of fatty acid oxidation defects

B.                 Shamima Rahman          Assessing mitochondrial function

C.                 Richard Kirk                   Finding the genetic mutation

15:45          FINISH

To confirm your attendance please email elaine.murphy@uclh.nhs.uk