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JUST PUBLISHED ‒ Moving from information and collaboration to action: Report from the 5th International Dog Health Workshop in Helsinki, June 2024 ×

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 for these breeds
GTPs
Agrotis S.r.l.
Antagene
BioBank AS
Certagen GmbH
CMSCH
EVG Diagnostics
Genomia s.r.o
INNO
Laboklin Gmbh & Co. KG
Laboratorios Labocor S.L.
Orthopedic Foundation for Animals
Paw Print Genetics
PharmaDNA
Progènes-ADN
The Royal Kennel Club
VetGen LLC
VHL Genetics/ Combibreed
Weatherbys Scientific
Wisdom Panel - Kinship
Zoolyx

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.1>A
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
Inheritance
AR

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.

Key Comment

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

HSP Test-Specific Data

Agrotis S.r.l.

GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T

Antagene

GTP
GTP Name
Antagene
Breed
OMIA
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
Breed
OMIA
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T

Certagen GmbH

GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T

CMSCH

GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T

EVG Diagnostics

GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
L2HGA
Mutation
c.1297T>C

Genomia s.r.o

GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
GTP Disease Synonym
L2HGA
Gene Name
L2HGDH
Mutation
c.1298_1300delinsCTT
Mutation Comment
g.26723470_26723472delinsAAG

INNO

GTP
GTP Name
INNO
Breed
OMIA
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T

The Royal Kennel Club

GTP
GTP Name
The Kennel Club
Breed
OMIA
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

Laboratorios Labocor S.L.

GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T

Laboklin Gmbh & Co. KG

GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
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
GTP Name
Orthopedic Foundation for Animals
Breed
OMIA
GTP Disease Name
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
Gene Name
MFSD12
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
GTP Name
Paw Print Genetics
Breed
OMIA
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
Breed
OMIA
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T

Progènes-ADN

GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T

VetGen LLC

GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
L2HGA
Mutation
c.1297T>C, c.1299C>T

VHL Genetics/ Combibreed

GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T

Weatherbys Scientific

GTP
GTP Name
Weatherbys Scientific
Breed
OMIA
GTP Disease Name
L-2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
Gene Name
L2HGA
Mutation
c.1297T>C, c.1299C>T

Wisdom Panel - Kinship

GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
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
Breed
OMIA
Gene Name
L2HGA
Mutation
c.1297T>C; c.1299C>T
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