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L2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type) - Variant 2

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Test Overview:

L2- Hydroxyglutaric Aciduria (L2-HGA) is an inherited neurometabolic disorder affecting dogs. Affected dogs have a mutation in the Enzyme that breaks down L2-hydroxyglutaric acid resulting in increased levels of L2-hydroxyglutaric acid in urine, blood and Cerebrospinal Fluid and progressive damage to the brain. Affected dogs typically present with symptoms of neurologic disease including “wobbly” gait, tremors, seizures, muscle stiffness with exercise or excitement and changes in behaviour between 4 months and one year of age. In some cases, affected dogs do not present with disease until later in life.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

L2HGDH

Variant Detected:

chr8:26723470 (canFam3): C>T; chr8:26723472 (canFam3): T>C

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Recommended Screening:

Genetic testing of the L2HGDH gene will reliably determine if a dog is a genetic carrier of L2- Hydroxyglutaric Aciduria.

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/20852250/ 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]

Associated Breed(s):

Staffordshire Bull Terrier ,

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