Are you affected by one of the very rare GSDs? Our mission is to support those affected by ANY glycogen storage disease, even the most rare ones, so please get in touch.
The more recently discovered GSDs have very few diagnosed cases, but we expect diagnosis rates to accelerate as awareness is raised and genetic testing is more widley available. For example, GSD13 currently has just three people diagnosed in the UK. For most of the others there may well be no known cases in the UK. Whilst we don’t yet have very much information on these GSDs, we want to hear from you if you have such a diagnosis.
To the best of our understanding the list is currently as follows, we have provided each with a link to some more information.
GSD8 no longer exists, these cases are now considered to be a sub type of GSD9 – PhK deficiency.
GSD10 (phosphoglycerate mutase deficiency) – Muscle –
Go to GSD10 on NIH Genetics Home Reference
GSD11 (lactate dehydrogenase deficiency) – Muscle –
Go to GSD11 on NIH Genetics Home Reference
GSD12 (aldolase A deficiency) – Muscle –
Go to GSD12 on NIH Genetic and Rare Diseases
GSD14 involving mutations in the PGM1 gene, has been reclassified as the congenital disorder of glycosylation, CDG1T.
GSD15 (glycogenin deficiency) – Muscle –
Go to GSD15 on the OMIM database
Phosphoglycerate kinase 1 deficiency – Anaemia and Muscle forms –
Go to NIH Genetics Home Reference
Fanconi-Bickel disease (hepatorenal glycogenosis with renal Fanconi syndrome); used to be referred to as a type of GSD11 but that is no longer the case.
More information to come
As we get to understand more about these conditions, and as we become aware of people dignosed in the UK, we will endeavour to add pages to the web site to provide information.