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

General

Disease Name
L-2-Hydroxyglutaric Aciduria (L-2-HGA)
OMIA
1371
Gene Name
L2HGDH
Gene Name 2
L2HGA
Mutation
c.1299C>T
Mutation 2
c.1297T>C
Mutation 3
c.1A>G
OMIM
236792
Disease Code
L2HGA
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.
Published 2
Shea, A., De Risio, L., Carruthers, H., Ekiri, A., Beltran, E. : Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers. Vet Rec :, 2016. Pubmed reference: 27729589. DOI: 10.1136/vr.103783.
Published 3
Bannasch, D., Young, A., Myers, J., Truv??, K., Dickinson, P., Gregg, J., Davis, R., Bongcam-Rudloff, E., Webster, M.T., Lindblad-Toh, K., Pedersen, N. : Localization of canine brachycephaly using an
Body/System/Process
Metabolic
Inheritance
AR
Gene Name Text
L2HGDH
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