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L-2-HGA (L-2-Hydroxyglutaric Aciduria)

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Overview

L-2-HGA is a neurometabolic disorder affecting Staffordshire bull terriers.   The disease is characterized by elevated levels of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. It causes progressive deterioration of the central nervous system function. This results in neurological defects including psychomotor retardation, altered behaviour, seizures(like epilepsy) and ataxia(observed as “shaky walking”). The disease is caused by double substitution (c. 1297T   C, C c. 1299C   T) in exon 10 of L2HGDH gene coding L2-hydroglutaric dehydrogenase enzyme. L-2-HGA has a high degree of severity due to the excessive affects on the affected dog. Clinical signs usually appear between 6 months and one year (although they can appear later). The degeneration of psychomotor skills often results in a decreased quality of life for your dog.

Genetic Testing

Animal DNA Laboratory provides a DNA test that determines the genetic predisposition to L-2-HGA. L-2-Hydroxyglutaric Aciduria is an autosomal recessive disease meaning the dog will only be affected when two copies of the recessive gene variant are present. These will have been inherited from both parents. A direct gene test can detect whether a dog is clear, carrier or is affected by the disease.

Genetic test interpretation

Not Detected
This dog does not have the gene variant and will never produce affected offspring.

Carrier
This dog has one copy of the gene variant. It is not affected, however, it will pass the gene variant onto its offspring 50% of the time.

Affected
This dog has two copies of the gene variant.  It will be affected and will pass one copy of the gene variant onto its offspring 100% of the time.

Breeds Affected

  • Staffordshire Bull Terrier

References:
Penderis J., Clavin J., Abramson C., Jakobs C., Pettitt L., Binns M. M., Vehoeven N. M., O’Driscoll E., Platt S. R., Mellerexh C. S.: L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet 2007;44:334-340.

 

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L-2-HGA (L-2-Hydroxyglutaric Aciduria)
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