L2HGA testing in staffords

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    (L-2-hydroxglutaric aciduria) in Staffordshire Bull Terriers is a neurometabolic disorder characterised by elevated levels of L-2-hydroxglutaric acid in urine, plasms and cerebrospinal fluid.
    L-2-HGA affects the central nervous system, with clinical signs usually apparent between 6 months and 1 year ( although they can appear later ). Symptoms include epileptic seizures, ” wobbly ” gait, tremors, muscle stiffness as a result of exercise or excitement and altered behaviour.
    The mutation, or change to the gene, probably occurred spontaneously in a single dog but once in the population has been inherited from generation to generation like any other gene. The disorder shows an autosomal recessive mode of inheritance: two copies of the defective gene ( one inherited from each parent ) have to be present for a dog to be affected by the disease. Individuals with one copy of the defective gene and one copy of the normal gene – called carriers – show no symptons but can pass the defective gene onto thier offspring. When 2 apparently healthy carriers are crossed, 25% ( on average ) of the offspring will be affected by the disease, 25% will be clear and the remaining 50% will themselves be carriers.
    Carriers can still be bred to clear dogs. On average, 50% of such a litter will be clear and 50% carriers; there can be no affecteds produced from such a mating. Pups which will be used for breeding can themselves be DNA tested to determine whether they are clear or carrier.

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