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L‐2‐Hydroxyglutaric Aciduria (L2-HGA) is a rare metabolic disease that can cause nerve damage, muscle cramps and seizures.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 8 |
| Mutation | c.1298_1300delinsCTT |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | L-2-HGA; L2HGA; Staffy Cramp |
Informations générales
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.
Caractéristiques cliniques
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
Références
Pubmed ID: 17475916
Year published: 2007
Omia ID: 1371
Omia variant ID: 735