A marathon for AGSD-UK
Angela Regazzoni is running the London Marathon on 22 April. Read more and sponsor her - click here.
AGSD-UK Annual Conference 2012 Bedfordshire

A date for your diary - Sat 29 and Sun 30 September. A fabulous location for a great weekend. More details.
Pilot drug trial in McArdle's
The MDC has announced a major grant for a pilot drug trial in McArdle Disease. You can read more about the grant here.

 

 

Glycogen Storage Disease Type III

Also known as Cori disease or debrancher enzyme deficiency.

Children with GSD III are often first diagnosed because they have been noticed to have a swollen abdomen due to a very large liver. Some children have problems with low blood sugars on fasting but this is not as common as in GSD I.

Growth may be delayed during childhood but the majority attain a normal final adult height. Although some older individuals develop problems with muscle weakness (which may also affect the heart), the outcome for most is good with the liver returning to a normal size with age.

Type III summary
Symptoms Swollen abdomen, low blood sugars on fasting
(for some), growth delayed during childhood
Secondary symptoms Problems with muscle weakness
Treatment See below
Outlook Good, with the liver returning to a normal
size with age