L2HGA - Hydroxyglutaric Aciduria

In the past few years a small number of Staffords have been diagnosed with a metabolic disorder, its clinical name is L2 Hydroxyglutaric Aciduria or L2HGA.  This condition manifests itself in varied ways with affected dogs displaying behavioural changes and dementia, anxiety attacks, having full blown seizures, as well as exercise intolerance and ataxia (unsteady gait), tremors and muscular stiffness.  Dogs from totally different bloodlines have been found to be sufferers and the number of affected dogs diagnosed has risen. 

The disorder (and a similar linked disorder D2HGA) is found in humans, again very rare, but nevertheless devastating for those families affected by it.  The disorder has an autosomal recessive method of inheritance, which means that both parents must be carriers of the affected gene to produce affected offspring.

Through excessive hard work not only on behalf of the Animal Health Trust at Newmarket and by people submitting blood and urine samples from the families of affected animals a genetic test has been determined to identify the carriers of the gene which causes L2HGA.

IT IS THEREFORE ADVISABLE THAT ALL BREEDING STOCK BE SCREENED IN ORDER TO ERADICATE THIS CONDITION IN THE FUTURE.

This can be done by submitting a blood sample to the AHT at Newmarket.  For instructions on sample collection please download the request for DNA testing from here. Please note that testing can take up to 6 weeks for results so please make sure you bare this in mind before any mating takes place.

 

HC - Hereditary Cataracts

It is known that HC is inherited by an automal recessive path (i.e. both parents must be carriers of the defective gene to produce affected offspring).  HC is a progressive condition and this means that although a puppy is not born with cataracts they will start to develop at a juvenile age (maybe from 8 months onwards), and will progress until the dog is totally blind.  This condition is bilateral which means it affects both eyes equally. 

Thanks to the tireless research by the AHT, there is now a DNA test for the Hereditary Cataracts.

For instructions on sample collection please download request form for DNA testing from here.

 

Cost of Testing

Both the test for L2HGA and HC are £60 each, however both tests can be done for £100 if done together (this is subject to change by the AHT).  Please visit the AHT website for instructions on how to have the tests done and to download the relevant forms.  Please note that your veterinarian may charge you separately to the AHT for the extraction of DNA for the relevant tests.

Further details can be found on the AHT website:-

www.aht.org.uk