Disease overview

L-2-hydroxyglutaricacidemia is a rare neurometabolic disorder due to a genetic mutation that causes a lack of an enzyme essential for the breakdown of a product known to cause oxidative stress on the body.

Gene name

L2HGDH

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs include neurological changes such as seizures, and behavior changes such as aggression and hyperactivity. These signs are progressive, and present as early as 4 months of age.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Blood, urine, and other fluids will be tested for elevated levels of L-2-hydroxyglutaric acid for a definitive diagnosis. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

, ,

Citations

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. Epub 2012 Jul 27. PMID: 22843824.

Penderis J, Calvin J, Abramson C, Jakobs C, Pettitt L, Binns MM, Verhoeven NM, O'Driscoll E, Platt SR, Mellersh CS. L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet. 2007 May;44(5):334-40. doi: 10.1136/jmg.2006.042507. PMID: 17475916; PMCID: PMC2597990.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.