L-2-hydroxyglutaric aciduria (L2HGA)

L-2-HGA (L-2-hydroxyglutaric aciduria) is a neurometabolic disorder characterised by elevated... more
L-2-HGA (L-2-hydroxyglutaric aciduria) in Staffordshire Bull Terriers is a neurometabolic disorder characterised by elevated levels of L-2-hydroxyglutaric acid in urine, plasma and cerebrospinal fluid. L-2-HGA affects the central nervous system, with clinical signs usually apparent between 6 months and one year (although they can appear later). L-2-HGA produces a variety of neurological deficits, including psychomotor retardation, seizures and ataxia. Symptoms are wobbly" gait, tremors, muscle stiffness as a result of exercise or excitement and altered behaviour."
autosomal recessive
Test duration
3-5 days after arrival of the sample in the lab
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