Re: L-2-HGA in Staffordshire Bull Terriers

Neil Wheadon — Thu, 26 Apr 2012 17:40:14 GMT

Thanks Mark

I was rather hoping you were lurking over your keyboard, interesting as ever

Re: L-2-HGA in Staffordshire Bull Terriers

Mark Lowrie — Thu, 26 Apr 2012 17:32:17 GMT

Not sure I’ve much to add over what you say in your original post Neil. However, the disease causes brain signs and the major features likely to be seen clinically are seizures and ataxia in all four legs.

L-2-HGA is inherited as an autosomal recessive disease resulting in inhibition of the L-2-hydroxyglutarate dehydrogenase enzyme. This results in a build-up of L-2-HGA which is excreted in the urine (hence the aciduria). The neurological effects are thought to be due to the slow build-up of L-2-HGA in the brain over time (oxidative stress).

Therefore dogs do not present from birth but a little later in life once a lot of this L-2-HGA has built-up. And then the disease slowly progresses over many years, usually with ataxia initially and seizures later.

Diagnosis is now mainly by doing the DNA test although you can measure urinary organic acids (a bit of a palava) and MRI of the brain may reveal bilateral symmetrical changes compatible with a metabolic brain disorder.

There is no treatment or management for the disease. If seizures occur then standard anti-epileptic drugs can be used to manage these. The dogs I have seen with this condition tend to live a relatively long life. Some people describe using anti-oxidant supplements (L-carnitine, coenzyme Q10) and riboflavin as there is a suggestion that oxidative stress is the cause of the neurodegeneration. However, we have no scientific evidence that these are of benefit in this disease.

Re: L-2-HGA in Staffordshire Bull Terriers

Neil Wheadon — Thu, 26 Apr 2012 17:27:00 GMT

Any positives?

The kennel club have a list of those dogs affected http://www.thekennelclub.org.uk/item/1145

Do we need to tell them, or does the AHT tell them, more to the point does the owner consent to this?

Re: L-2-HGA in Staffordshire Bull Terriers

peewit — Thu, 26 Apr 2012 17:15:35 GMT

I've never seen a case but have tested plenty of staffs for a breeder for it!