L-2-HGA 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 L-2-HGA. 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 D-2 HGA) 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 L-2-HGA.

HC – HEREDITARY CATARACTS 

It is known that HC is inherited by and automal recessive path (i.e. both parents must be carriers of the defective gene to produce and 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 is affects both eyes equally. Thanks to the tireless research by the Animal Health Trust in Newmarket there is a now a DNA Test for Hereditary Cataracts.

PHPV – PERSITENT HYPERPLASTIC PRIMARY VITREOUS

The mode of inheritance of PHPV is not so clear, but it is known that it is a congenital condition (present at birth) and that it is not progressive. This means that if a puppy is born with PHPV it can be detected by ophthalmic screening from 6 weeks of age and if it is affected, whatever the condition of the problem at that stage it will not change throughout the dogs life.

Either of the above conditions can be operated on, but it is a serious operation and can be traumatic and very expensive. It is not always covered by insurance due to the hereditary nature.

Even though the genetic test is now available for Hereditary Cataracts it is still important to screen for PHPV.