L-2-Hydroxyglutaric Aciduria (L-2-HGA)
Breed: Staffordshire Bull Terrier
Generic Phene Data
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 in this breed
GTPs
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.1>A
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.
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. 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.
Breed Specific Data
Antagene
GTP
GTP Name
Antagene
GTP Disease Name
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 mol
Application in the Breed
Carriers may be bred to normal animals (N/hga x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/hga x N/hga) nor of affected animals (hga/hga). Seizures, difficulty walking, behaviour changes (hyperactivity, aggression, or dementia) (6-12 months of age)
Inheritance
AR
FCI Number
76
GTP Breed
Staffordshire Bull Terrier
BioBank AS
GTP
GTP Name
BioBank AS
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
CAG GmbH Center for Animal Genetics
GTP Name
Center for Animal Genetics
GTP Disease Name
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 mol
Application in the Breed
Carriers may be bred to normal animals (N/hga x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/hga x N/hga) nor of affected animals (hga/hga). Seizures, difficulty walking, behaviour changes (hyperactivity, aggression, or dementia) (6-12 months of age)
Inheritance
AR
FCI Number
76
GTP Breed
Staffordshire Bull Terrier
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
CMSCH
GTP
GTP Name
CMSCH
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
GTP Disease Name
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
GTP Disease Synonym
L-2-HGA
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
Nature of test
mutation test
FCI Number
76
GTP Breed
Staffordshire Bull Terrier
Genoscoper Laboratories Oy
GTP Name
Genoscoper Laboratories Oy
GTP Disease Name
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 mol
Application in the Breed
Carriers may be bred to normal animals (N/hga x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/hga x N/hga) nor of affected animals (hga/hga). Seizures, difficulty walking, behaviour changes (hyperactivity, aggression, or dementia) (6-12 months of age)
Inheritance
AR
FCI Number
76
GTP Breed
Staffordshire Bull Terrier
INNO
GTP
GTP Name
INNO
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
Laboratorios Labocor S.L.
GTP Name
Laboratorios Labocor S.L.
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
Laboklin Gmbh & Co. KG
GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
Nature of test
mutation test
FCI Number
76
GTP Breed
Staffordshire Bull Terrier
Orthopedic Foundation for Animals
GTP Name
Orthopedic Foundation for Animals
GTP Disease Name
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 mol
Application in the Breed
Carriers may be bred to normal animals (N/hga x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/hga x N/hga) nor of affected animals (hga/hga). Seizures, difficulty walking, behaviour changes (hyperactivity, aggression, or dementia) (6-12 months of age)
Inheritance
AR
FCI Number
76
GTP Breed
Staffordshire Bull Terrier
Paw Print Genetics
GTP Name
Paw Print Genetics
GTP Disease Name
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
Gene Name
L2HGA
Mutation
c.1297T>C
Nature of test
mutation test
FCI Number
76
GTP Breed
Staffordshire Bull Terrier
PharmaDNA
GTP
GTP Name
PharmaDNA
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
Progènes-ADN
GTP
GTP Name
Progenes ADN
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
VetGen LLC
GTP
GTP Name
VetGen LLC
Gene Name
L2HGA
Mutation
c.1297T>C, c.1299C>T
Wisdom Health (formerly Mars Veterinary)
GTP Name
Wisdom Health (formerly Mars Veterinary)
GTP Disease Name
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
Nature of test
mutation test
GTP- or Breed-Specific Publications
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 mol
Application in the Breed
Carriers may be bred to normal animals (N/hga x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/hga x N/hga) nor of affected animals (hga/hga). Seizures, difficulty walking, behaviour changes (hyperactivity, aggression, or dementia) (6-12 months of age)
Inheritance
AR
FCI Number
76
GTP Breed
Staffordshire Bull Terrier
Zoolyx
GTP
GTP Name
Zoolyx
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
The Kennel Club
GTP
GTP Name
The Kennel Club
GTP Disease Name
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
Gene Name
L2HGA
Mutation
c.1297T>C
This test is outsourced to:
Weatherby's
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
VHL Genetics
GTP
GTP Name
VHL Genetics
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
EVG Diagnostics
GTP
GTP Name
EVG Molecular Diagnostics
Gene Name
L2HGA
Mutation
c.1297T>C