L-2-Hydroxyglutaric Aciduria
L-2-Hydroxyglutaric Aciduria is a rare inherited metabolic disorder causing progressive neurological dysfunction.
Detailed Description
L-2-HGA is caused by a mutation in the L2HGDH gene, leading to accumulation of L-2-hydroxyglutaric acid in the brain. This results in neurological signs such as seizures, ataxia, and behavioral changes, with progression over time and significant impact on quality of life.
Common Symptoms
- Seizures
- Ataxia (uncoordinated movement)
- Muscle stiffness
- Behavioral changes
- Tremors
Management Options
- Symptomatic management with antiepileptic drugs
- Supportive care
Frequently Asked Questions
Can L-2-HGA be cured?
No, only managed symptomatically.
How is L-2-HGA inherited?
Autosomal recessive; both parents must be carriers.
Is genetic testing reliable?
Yes, DNA testing is definitive for carrier and affected status.
How common is L-2-HGA now?
Rare in well-bred dogs due to widespread genetic testing.
Condition Details
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Typical Age of Onset
6 months to 1 year
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Testing Available
Yes
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Diagnosing Methods
Urine organic acid analysis; MRI; Genetic testing
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Preventative Measures
Genetic testing of breeding stock
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Related Conditions
Epilepsy, Other metabolic or neurodegenerative diseases