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H724

L‐2‐hydroxyglutaric aciduria (L2-HGA) is a rare metabolic disease that can cause nerve damage, muscle cramps and seizures.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

L‐2‐hydroxyglutaric aciduria (L2-HGA) is a rare metabolic disease that can cause nerve damage, muscle cramps and seizures. As the disorder was discovered in the Staffordshire Bull Terrier, it is also occasionally known as “Staffy Cramp”. It is caused by a recessive mutation to the gene L2HGDH. This variant occurs in the Staffordshire Bull Terrier. A related variant has been observed in the Yorkshire Terrier.

Clinical features

L2-HGA can cause seizures and behavior changes in affected dogs. Affected dogs can experience seizures, behavior changes, or both. Behaviour changes can range from loss of trained behavior to hyperactivity to increased aggression. Seizures can vary in severity and duration. Affected dogs usually require medical management of the symptoms. Clinical symptoms appear as early as 4 months to one year (but also may occur much later).

Additional information

References

Pubmed ID: 17475916

Omia ID: 1371

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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