Donate
Search Term: L-2-Hydroxyglutaric Aciduria (L-2-HGA)
Breeds
Relevance Rating: There is strong evidence or research available for these breeds
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
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.1>A
OMIM
236792
Test Type
Genetic Disease/Disorder
Key Comments
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
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
OMIA Url
Inheritance
AR
Gene Name Text
L2HGDH
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. Penderis, J., J. Calvin, C. Abramson, C. Jakobs, L. Pettitt, M. M. Binns, N. M. Verhoeven, E. O'Driscoll, S. R. Platt and C. S. Mellersh (2007). "L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model." Journal of Medical Genetics 44(5): 334-340.
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. Farias, F. H., R. Zeng, G. S. Johnson, G. D. Shelton, D. Paquette and D. P. O'Brien (2012). "A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria." BMC Vet Res 8: 124.; Sanchez-Masian, D. F., R. Artuch, J. Mascort, C. Jakobs, G. Salomons, A. Zamora, M. Casado, M. Fernandez, A. Recio and A. Lujan (2012). "L-2-hydroxyglutaric aciduria in two female Yorkshire terriers." J Am Anim Hosp Assoc 48(5): 366-371.
GTPs
La Tour de Salvagny, N/A
FR
FR
Antagene
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Non-Participant Out Sourced Testing Any Patents Held
Toronto, Ontario
CA
CA
Maribor
SI
SI
EVG Diagnostics
In House Testing ISO Accredited/ GTP Non-Participant Other Recognized Accreditation Out Sourced Testing
Plzen
CZ
CZ
Genomia s.r.o
HGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participation Pending
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participation Pending Any Patents Held Supporter
St. Kilda, Victoria
AU
AU
Columbia, Missouri
US
US
Orthopedic Foundation for Animals
HGTD Leadership Sponsor Test Discovery- GTP Non-Participant Out Sourced Testing
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation Subsidiary Company
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing Supporter
Naas, Co. Kildare
IE
IE
Weatherbys Scientific
In House Testing ISO Accredited/LAB ISO Accredited/tests Non-Participant Other Recognized Accreditation Out Sourced Testing Participation Pending Supporter
Vancouver, Washington
US
US
Wisdom Panel - Kinship
HGTD Leadership Sponsor Test Discovery- GTP Other Recognized Accreditation Out Sourced Testing Participation Pending Sponsor
Zagreb
HR
HR
AnimaLabs
Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Participation Pending Supporter-
HGTD Quick Search
-
IPFD Weighs In
...on recent media commentary: Genetics and Genomics for Dogs: Balancing daunting challenges and great potential
-
The HGTD's genetic counselling resources index provides access to basic introductory articles on genetics, articles on application of genetics in breed health management, and advanced work in technical genetics research. Breed-specific information is also available in our Pedigreed Dogs Database.
Key Comment