L-2-hydroxyglutaric aciduria

Hereditary

An inherited neurometabolic disorder caused by mutations in the L2HGDH gene, leading to accumulation of L-2-hydroxyglutaric acid and progressive brain dysfunction. It is best known in Staffordshire Bull Terriers and related breeds. Affected dogs show episodic tremors, ataxia, dementia and seizures, often worsened by excitement or exercise.

Quick facts

Type:: Genetic
Typical onset:: Insidious
Body systems:: Nervous, Metabolic
Affected species:: DOG
Reference codes:: ICD11 5C50.E1

Sources & references

OMIA — OMIA phene entry for L-2-hydroxyglutaric aciduria associated with L2HGDH in the dog.
Wikipedia — General overview of L-2-hydroxyglutaric aciduria including the canine form.
ICD-11

This content is for educational purposes and is not a substitute for professional veterinary advice. If you are worried about your pet, contact your veterinarian.