L-2-Hydroxyglutaric Aciduria

Body function:
Metabolic & Digestive
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L-2-hydroxyglutaric aciduria mutation 1 is a genetic disease primarily affecting Staffordshire Bull Terrier dogs. It’s caused by a mutation in the L2HGDH gene and leaves dogs unable to break down L-2-hydroxyglutaric acid. As a result, L-2-hydroxyglutaric acid builds up in urine, blood, and in the brain, causing brain damage.
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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

Staffordshire Bull Terrier

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What does this mean for a dog with this trait?

There is no known cure for L-2-hydroxyglutaric aciduria mutation 1. Its symptoms may be managed by both anti-seizure and anti-anxiety medications.

Symptoms

Signs of L-2-hydroxyglutaric aciduria typically appear between 6 and 12 months of age. They include neurological issues like seizures, tremors, ataxia, and poor balance. It can also lead to severe behavior changes like increased aggression.

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