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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 (hyperactivity, aggression
Dementia
Seizures

Posture and Appearance
Postural defects
Wide-based stance

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

Cranial Nerves
Impaired vision
Decreased menace response​
DIffuse central nervous system
Autosomal recessive L2HGDH gene mutation
To read more about this disease click below:
References
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