What Is An
INHERITED METABOLIC DISORDER
Inherited Metabolic Disorders, also called Inborn Errors of Metabolism, are a large group of genetic diseases caused by malfunctioning of a specific metabolic pathway.
A metabolic pathway is a number of processes, by mean of a sequence of chemical reactions, which happens in human body on products of dietary or endogenous origin with the aim of make its available or avoid their accumulation.
These metabolic processes are fundamental to produce essential compounds, to remove toxic compounds from body organs or to produce energy inside the cells. Almost all these reaction are possible by means of the activity of enzymes (usually proteins) which often needs a cofactor (vitamins, oligoelements).
Other Sources of Climb Information
are available for MCADD and Tyrosinemia
Climbs Executive Director Set to Retire
Steve Hannigan, Climbs Executive Director has opted to go for early retirement and will leave Climb on the 30th September 2014.
Steve has been with Climb for 14 years and has spearheaded many projects including the formation of the National Information Centre for Metabolic Diseases.
Steve will leave a big gap in the Climb team after he retires and he will be missed by everyone, His successor is yet to be appointed.