Description: L-2-HGA is a neuro-metabolic disease that has diverse clinical manifestations e.g. psychomotor retardation, epilepsy-like seizures, ataxia manifested as unstable gait, muscle stiffness and the like. Elevated levels of L-2-hydroxyglutaric acid in the urine, plasma and cerebrospinal fluid are typical of this disease. In a healthy organism, L-2-hydroxyglutarate is normally metabolized to alpha-ketoglutarate. Dogs affected with L-2-HGA accumulate L-2-hydroxyglutarate in the body, leading to central nervous system damage. Clinical symptoms usually occur at the age of 6 months to one year (but may occur later). Because the clinical symptoms are diverse or may be accompanied by other diseases, a molecular genetic test is recommended. DNA analysis reveals the presence or absence of a mutation in the L2HGDH gene that is responsible for L-2-HGA (Penderis et al. 2008).
Inheritance: autosomal recessive
Mutation: double substitution c.1297T→C; c.1299C C→T in exon 10 of the L2HGDH gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Staffordshire bull terriers
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