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L-2-Hydroxyglutaric Aciduria (L-2-HGA)

Breed: English Springer Spaniel

Breeds

Relevance Rating: There is some evidence or research available in this breed

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds

General

Disease Name
L-2-Hydroxyglutaric Aciduria (L-2-HGA)
Gene Name 2
L2HGA
Mutation
c.1299C>T
Mutation 2
c.1297T>C
Mutation 3
c.1A>G
Test Type
Genetic Disease/Disorder
Details
Symptoms include: seizures, difficulty walking, behaviour changes (hyperactivity, aggression, or dementia) Age of onset 6-12 months of age. Most dogs euthanised by 6 years of age, though variations in severity of symptoms and challenges with treatment could mean earlier euthanisation.
Details 2
To describe the development of clinical signs (CS) and outcome of L-2-hydroxyglutaric aciduria (L-2-HGA)... The mean age of CS onset was 12?months (range 2.5-60). Gait dysfunction was reported... with stiffness of all four limbs the most common... and earliest recognised abnormality. [also reported] Kyphosis, body and/or head tremors, and hypermetria were frequent. Behavioural changes were present... most commonly staring into space, signs of dementia, and loss of training... dogs demonstrated paroxysmal seizure-like/dyskinetic episodes. Nineteen (70 per cent) dogs were alive at a mean survival time of 76.6?months after onset of CS... Euthanasia occurred at a mean survival time of 44?months after onset of CS... L-2-HGA is considered a progressive neurological disease; however, CS can be successfully managed with affected dogs potentially living a normal lifespan. (From Shea et al, 2016) [clincial signs findings were owner reported, please see referenced research]
Published
Penderis, J., Calvin, J., Abramson, C., Jakobs, C., Pettitt, L., Binns, M.M., Verhoeven, N.M., O'Driscoll, E., Platt, S.R., Mellersh, C.S. : L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet 44:334-40, 2007. Pubmed reference: 17475916. DOI: 10.1136/jmg.2006.042507.

Breed Specific Info

Researched Breeds
Staffordshire Bull Terrier, Yorkshire Terrier
Breed-specific 1
Staffordshire Bull Terrier
Breed-specific 1 Details
Publication demonstrated strong association between mutation and disease. Organic acid analysis demonstrated accumulation of 2-HG in urine of affected dogs. Penderis et al., (2007) L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. Journal of Medical Genetics, 44, 334-40.
Breed-specific 2
West Highland White Terrier
Breed-specific 2 Details
unpublished
Breed-specific 3
Yorkshire Terrier
Breed-specific details 3
Two separate publications identify identical mutation in a total of three affected Yorkshire Terriers. Organic acid analysis demonstrated accumulation of 2-HG in urine of affected dogs. Farias et al., (2012) A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. Sanchez-Masian et al., (2012) L-2-hydroxyglutaric aciduria in two female Yorkshire terriers.
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