

L2 HGA
There is a new condition we have just found in Stafford's it's called L2 HGA and its in all Stafford's this site
has a health and fitness thread and in the section called L2HGA Results only you will find a dog from
South Africa has just failed his genetic test for this brain disease and has been classified as a carrier .
This L2 is inherited the same way as HC. You have to register as a member but we don't bite and we don't
have anyone from your country so give it a go, it's full of good debates it's called www.bullbreedsonline.
com
Laureen Williams (UK)
"Once a DNA test is available for any recessive inherited canine condition (such as L-2-HGA or Hereditary
Cataract in the Staffordshire Bull Terrier) it should be used for two purposes. Firstly and foremost it
should be used to avoid breeding further affected animals. Secondly, it can be used to eliminate the
disease mutation from the breeding population, over time.
To avoid breeding affected animals the following 3 combinations of animals must be avoided:
a) affected x affected,
b) affected x carrier and
c) carrier x carrier.
While avoiding the breeding of affected animals however, it is also very important to avoid restricting the
gene pool any more than is absolutely necessary and to maintain as many desirable breed characteristics
as possible. To this end the Animal Health Trust recommends breeding with carrier and affected dogs as
well as clear dogs, if they exhibit desirable characteristics, and as long as they are bred to dogs that have
TESTED CLEAR of the condition. These combinations of dogs will produce puppies that are carriers, so
it is essential any puppies that may be used for breeding are also tested, but no affected puppies will be
produced and good breed characteristics will be maintained. Using this strategy the disease mutation can
be eliminated slowly, over time, without any additional affected dogs being bred. There is no
disadvantage to the individual dog to be a carrier. Its health is unaffected in any way."
I hope that does the job!
Cathryn Mellersh (cathryn.mellersh@aht.org.uk)
L-2-HGA IN STAFFORDSHIRE BULL TERRIERS
Submitted for publication by Roger Pugh (UK)
L-2-HGA (L-2-hydroxyglutaric aciduria) in Staffordshire Bull Terriers is a neurometabolic disorder
characterized by elevated levels of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid.
L-2-HGA affects the central nervous system, with clinical signs usually apparent between 6 months and
one year (although they can appear later). Symptoms include epileptic seizures, "wobbly" gait, tremors,
muscle stiffness as a result of exercise or excitement and altered behaviour.
The mutation, or change to the structure of the gene, probably occurred spontaneously in a single dog
but once in the population has been inherited from generations to generation like any other gene. The
disorder shows an autosomal recessive mode of inheritance: two copies of the defective gene (one
inherited from each parent) have to be present for a dog to be affected by the disease. Individuals with
one copy of the defective gene and one copy of the normal gene – called carriers – show no symptoms
but can pass the defective gene onto their offspring. When two apparently healthy carriers are crossed,
25% (on average) of the offspring will be affected by the disease, 25% will be clear and the remaining
50% will themselves be carriers.
The mutation responsible for the disease has recently been identified at the Animal Health Trust. Using
the information from this research, we have developed a DNA test for the disease. This test not only
diagnoses dogs affected with this disease but can also detect those dogs which are carriers, displaying
no symptoms of the disease but able to produce affected pups. Carriers could not be detected by the
tests previously available which involved either a blood or urine test detecting elevated levels of L-2-
hydroxyglutarate or magnetic resonance imaging. Under most circumstances, there will be a much
greater number of carriers than affected animals in a population. It is important to eliminate such carriers
from a breeding population since they represent a hidden reservoir of the disease that can produce
affected dogs at any time.
The test is available now and information on submitting samples is given below. Breeders will be sent
results identifying their dog as belonging to one of three categories:
CLEAR: The dog has 2 copies of the normal gene and will neither develop L-2-HGA, nor pass a copy of
the L-2-HGA gene to any of its offspring.
CARRIER: The dog has one copy of the normal gene and one copy of the mutant gene that causes L-2-
HGA. It will not develop L-2-HGA but will pass on the L-2-HGA gene to 50% (on average) of its offspring.
AFFECTED: The dog has two copies of the L-2-HGA mutation and is affected with L-2-HGA. It will
develop L-2-HGA at some stage during its lifetime, assuming it lives to an appropriate age.
Carriers can still be bred to clear dogs. On average, 50% of such a litter will be clear and 50%
carriers; there can be no affected pups produced from such a mating. Pups which will be used for
breeding can themselves be DNA tested to determine whether they are clear or carriers.
L2HGA
What the heck is it??
Read below for more information...It took me 5 times to get it!!
I have included a link, to the
necessary forms needed, to
test for this disease...It is
important as a breeder to
have these tests done.
If we all pitch in, this disease
could be eliminated in as little
as one generation
My dogs are all L2HGA normal or clear! What the heck does this mean? Explanation of results:NORMAL: This dog has tested clear for the mutation causing L2HGA. It can only transmit a normal gene to offspring, and can be bred to a dog with any test result without producing affected offspring.
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