L2HGA was recognised in man in 1980, and in 2003 Abramson et.al. reported the disease in six Staffordshire Bull Terriers, the first time it had been seen in dogs. Academic research to date has primarily been focussed on pathologic and genetic aspects of L2HGA. Whilst various widely available anti-seizure and behavioural modification treatments have been used we have found no information regarding the specific treatment of L2HGA in the veterinary literature - but we are gathering information from veterinary neurologists. See our Find out more page for more info.
L-2-hydroxyglutaric aciduria causes a variety of signs, not all appear in every dog.
1. signs may start at between 6 and 12 months of age although some dogs may show signs shortly after birth, and some are not diagnosed until after 3 years old
2. signs and are not specific to L2HGA but may raise concern that the disease is present.
3. many affected dogs live into their teens, but some die or are euthanised at just a few months old due to severe symptoms, especially fits.
4. common signs are;
- seizures ('fits', 'epilepsy')
- ataxia (wobbly walking)
- dementia and other behavioural changes
- tremors and cramps, especially of back legs
- other signs reported include loss of obedience training, disorientation
5. signs may start suddenly or gradually.
The most recent academic paper, by Sanchez-Masian et al in 2012, describes L2HGA in two Yorkshire Terriers. These dogs showed signs of seizures and ataxia. An earlier paper, by Garosi LS in 2005, diagnosed L2HGA in a West Highland White Terrier.
This video is of Madge, an L-2-HGA affected Staffordshire Bull Terrier. This video was taken in 2002 and Madge was sadly put to sleep a short while later as her condition was deteriorating and she wasn't responding to treatment:
and follow this link to see Willow's video. Willow died in January 2014, at just 3-years-old: