London, United Kingdom, October 12, 2015 --(PR.com
)-- A new clinical resource has been added to medical education website EPGonline.org. The Hyperammonaemia Knowledge Centre has been developed to raise awareness of this rare yet life-threatening condition. Healthcare professionals are encouraged to use this resource to ensure they can correctly diagnose and treat this condition effectively.
Hyperammonaemia is a metabolic disturbance of the urea cycle characterised by an excess of ammonia in the blood.(1) Hyperammonaemia may develop soon after birth (early onset), or in childhood, adolescence or adulthood (late onset) and can be inherited or acquired.(2) Urea cycle disorders are extremely rare with an overall prevalence estimated at 1:8,000–1:44,000 births.(3) However, these values may be underestimated due to under-diagnosis, misdiagnosis and absent neonatal screening programmes.(3) Organic acidaemias are also rare, with a European prevalence estimated at 1:29,000–1:65,000(4).
The Hyperammonaemia Knowledge Centre is available for healthcare professionals to access free of charge and can be located here: http://www.epgonline.org/hyperammonaemia-knowledge-centre/. Users of this resource can expect to find important disease awareness information (epidemiology, pathophysiology, signs and symptoms, best practice guidelines, etc.), treatment options, a video channel and a resources section with useful external links.
Dr Toby Galbraith, Director of Content Strategy for epgonline.org said: "Hyperammonaemia is a rare condition that can be easily misdiagnosed due to signs and symptoms being present in other more common conditions such as sepsis. The purpose of this resource is to encourage healthcare professionals to recognise the signs, check ammonia levels if hyperammonaemia is suspected and start treatment immediately." The Hyperammonaemia Knowledge Centre has been made possible by an unrestricted educational grant from Orphan Europe.
Notes to Editors:
· EPG Health Media (Europe) Ltd publishes www.epgonline.org, an independent website dedicated to providing healthcare professionals worldwide with free access to a comprehensive range of disease and medicines information. Categorised by medical specialty, content within epgonline.org includes a multi-language database of approved medications, treatment guidelines, clinical trial information, journal abstracts, latest medical industry news, apps and a blog written by members.
· Orphan Europe is a pharmaceutical company aiming to provide treatment for patients with unmet medical needs suffering from rare diseases. Being part of Recordati since December 2007, it continues to be one of the most active players in the field of rare diseases. In 2011, Orphan Europe received the Corporate Award from the National Organization for Rare Diseases (NORD) in the USA for the development of Carbaglu® for the treatment of NAGS deficiency.
Orphan Europe is committed to improving knowledge of rare diseases among healthcare professionals. The best example is the support of Recordati Rare Diseases Foundation which provides unique, independent, high-level education on rare diseases. Orphan Europe shares the conviction that every single patient has the right to the best possible treatment.
1. Häberle J. Clinical practice: the management of hyperammonemia. Eur J Pediatr 2011;170:21–34.
2. Crisan E. Hyperammonemia. Medscape [Internet] 2014 April. Available from: http://emedicine.medscape.com/article/1174503.
3. Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 2012;7:32.
4. Hoffmann G. Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany. Eur J Pediatr 2004;163:76–80.