L-2-hydroxyglutaric Aciduria (L2HGA)

£40.00

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Petagenics works very closely with the UK Kennel Club, and as such, agree to send to the Kennel Club tests results of ALL Kennel Club registered dogs, irrelevant of status (clear, carrier, affected). You (the customer), hereby agree to Petagenics forwarding your dogs test results to the Kennel Club, should you object to your dogs results being included in the results sent to the Kennel Club, then you should indicate here.
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Description

Other Names:
L-2-hydroxyglutaricacidemia, Organic aciduria, L-2-HGA
Inheritance:
Autosomal Recessive
Mutation(s):
C>T, T>C
Affected Gene(s):
L2HGDH, L2HGDH
Affected Breed(s):
Shorty Bull, Staffordshire Bull Terrier

Common Symptoms

L-2- hydroxyglutaric aciduria (L-2-HGA) is an inherited neurometabolic disorder affecting dogs. Affected dogs have a mutation in the enzyme that breaks down L-2-hydroxyglutaric acid resulting in increased levels of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid and progressive damage to the brain. Affected dogs typically present between 4 months and one year of age with symptoms of neurologic disease including “wobbly” gait, tremors, seizures, muscle stiffness with exercise or excitement and changes in behavior. In some cases, affected dogs do not present with disease until later in life.

References

  • Abramson CJ, Platt SR, Jakobs C, Verhoeven NM, Dennis R, Garosi L, Shelton GD.L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers. J Vet Intern Med. 2003 Jul-Aug;17(4):551-6. [PubMed: 12892307]
  • Short AD, Mellersh CS, Platt H, Carter SD, Timofte D, Lohi H, Ollier WE. Exonic mutations in the L2HGDH gene in Staffordshire bull terriers. Vet Rec. 2010 Sep 18; 167(12):455-7. [PubMed: 20852250]