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L2-Hydroxyglutaric Aciduria (Yorkshire Terrier Type)

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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:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

L2HGDH

Variant Detected:

Chr. 8: c.1A>G p.(M1?) chr8:26760351 (canFam3): A/G

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 (Yorkshire terrier type).

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/22834903/ Farias FH, Zeng R, Johnson GS, Shelton GD, Paquette D, O'Brien DP. A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. BMC Vet Res. 2012 Jul 26;8:124. doi: 10.1186/1746-6148-8-124. [PubMed: 22834903] Sanchez-Masian DF, Artuch R, Mascort J, Jakobs C, Salomons G, Zamora A, Casado M, Fernandez M, Recio A, Lujan A. L-2-hydroxyglutaric aciduria in two female Yorkshire terriers. J Am Anim Hosp Assoc. 2012 Sep-Oct;48(5):366-71. doi: 10.5326/JAAHA-MS-5967. [PubMed: 22843824]

Associated Breed(s):

Yorkshire Terrier,

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