Breaking: Who remembers a time when you could... - Ataxia UK

Ataxia UK

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Who remembers a time when you could watch a program on TV and if something really important happened, it would be interupted, and you'd know what was going on. Not any more! There is crap on the TV all day, nobody knows what's going on but, they still give there opinion, as if they know it all. The list could go on...... and on ......and on. Is there a world standard facemask? Or because the WHO said no, any old bit of cloth or paper will do, wont it?

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"In 1927 Archibald Garrod presented the Hux-

ley Lecture at Charing Cross Hospital1Out of

this lecture emerged the concept of an “inborn

error of metabolism” whereby an inherited

defect may lead to the accumulation in cells or

body fluids of a metabolite which in itself may

predispose to disease. The disorders cited as

examples were all adult onset disorders.

Today there are over 200 known inborn

errors of metabolism (in 1999); however, the vast major-

ity of cases reported are of childhood onset

(<16 years of age). In part this may reflect the

fact that the paediatric forms of the disease are

more severe and hence more easily recognis-

able. However, in some cases it may be due to

a lack of awareness by physicians treating

adults of the possibility of inborn errors of

metabolism being a cause of disease. Certainly,

current experience of inborn errors of metabo-

lism leads us to think that, potentially, every

disorder has a milder form with a later onset.

In an attempt to increase awareness of adult

onset inborn errors of metabolism this article

reviews the disorders which can present at or

older than 16 years of age with CNS or neuro-

muscular disease.

........................." It goes on

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