This email is part of a series giving snapshots of activities planned for Focus 2012 in Liverpool from 30^th April to 3^rd May

Focus 2012 returns to Liverpool and the state of the art BT Convention Centre, ACC Liverpool which is situated on the Liverpool waterfront, adjacent to the famous Albert Dock and within walking distance of the city centre.

Inborn Errors of Metabolism (IEM) in adults are frequently misdiagnosed. Furthermore, the availability of new treatments and improving survival of adult patients with IEM has resulted in increased requirement for monitoring and diagnostic testing for these disorders. A parallel session on Wednesday 2^nd May (3.15pm – 5.15pm) will therefore be dedicated to this area.

The session will begin with a review of the diagnosis and monitoring of Haemochromatosis by Dr Martin Lombard. Dr Reena Sharma will then give an update on Anderson-Fabry disease, an X-linked lysosomal storage disorder which results in increasing disability and premature death. Treatment used to be entirely symptomatic, but enzyme replacement therapy has now become available and early results on trials for chaperone therapy look promising.

Professor Richard Ross will discuss Congenital Adrenal Hyperplasia (CAH) in adults. Metabolic abnormalities e.g. obesity, hypercholesterolemia, insulin resistance, and osteoporosis are known to be more common in adult patients with CAH than in the general population. Professor Ross will review new treatments, including a modified release formulation of hydrocortisone, Chronocort which has been developed for the treatment of adults with CAH and has been found to have beneficial effects.

Finally, Dr Lakshamninaryan Ranganath will give an update of recent developments in the investigation and treatment of Alakptonuria (AKU). In AKU, excess homogentisic acid causes damage to cartilage and heart valves and can also lead to renal stone formation. Following a post-mortem study in 2005, a ground breaking research programme into AKU was started in Liverpool with a focus on achieving a better understanding of AKU and developing new treatments.  A metabolic treatment of AKU is now potentially available in the form of the drug nitisinone.

Focus 2012                                                    Focus on the patient

BT Convention Centre, ACC Liverpool 30^th April – 3^rd May 2012

Sign up before 23^rd March for reduced registration rates: http://www.focus-acb.org.uk/