SpR Training Day

Adult Inherited Metabolic Disease


Lecture Theatre, Number 33

National Hospital for Neurology and Neurosurgery

Queen Square

London WC1N 3BG


Thursday September 20th 2012 [[Click here (free lunch) to book]]




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

[[or Click here (free lunch) to book]]