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Metabolic Encephalopathy (L-2-Hydroxyglutaric Aciduria)
  • Description
  • Signalment
  • Clinical Features
  • Neurolocalization
  • Genetics
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L-2-Hydroxyglutaric Aciduria is a deficiency in an enzyme (L-2-hydroxyglutarate dehydrogenase) which causes defects in the catabolism of organic acids leading to the accumulation of L-2-hydroxyglutarate in cells.
Age of Onset: 6 months - 2 years of age
Sex Predisposition: Any sex of animal can be affected
Clinical Course:
​Clinical signs worsen over time
Clinical Signs:
Behavioral/Mental Awareness
Altered behavior
Dementia
Seizures

Posture and Appearance
Wide-based stance

Movement
Ataxia
Dysmetric gait
Head pressing
Head and neck tremors
Loss of balance
Muscular stiffness
Thoracic limb hypermetria
Truncal sway

Proprioception
Proprioceptive deficits

Cranial Nerves
Impaired vision
Decreased menace response​
Intracranial
Autosomal recessive L2HGDH gene mutation

For breed-specific genetic testing, follow the links below:

https://www.wisdompanel.com/en-us/dog-health-conditions/l2hga-westie
To read more about this disease click below:
References
Picture
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