L-2-HGA (L-2-hydroxyglutaric aciduria) in Staffordshire ... - Laboklin

L-2-HGA - The disease
L-2-HGA (L-2-hydroxyglutaric aciduria)
in Staffordshire Bull Terriers
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-LGA 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.
L-2-HGA - The mutation and inheritance
L-2-HGA is inherited as an autosomal recessive trait. So there are three conditions a
cat can be: it can be clear or homozygous normal (genotype N/N) meaning that it
does not carry the mutation and will not develop L-2-HGA. Since it also cannot pass
the mutation onto its offspring, it can be mated to any other cat.
A cat which has one copy of the gene with the mutation and one copy without the
mutation is called a carrier or heterozygous (genotype N/L-2-HGA); while it will not be
affected by L-2-HGA, it can pass the mutation onto its offspring and should therefore
only be mated to clear cats.
Affected kittens have two gene copies with the mutation (genotype L-2-HGA/L-2-HGA
or homozygous affected); they will always pass the mutated gene onto their offspring.
L-2-HGA - The DNA test
By DNA testing, the responsible mutation can be shown directly. This method
provides a test with a very high accuracy and can be done at any age. It offers the
possibility to distinguish not only between affected and clear cats, but also to identify
clinically healthy carriers. This is an essential information for controlling the disease
in the breed, as carriers are able to spread the disease in the population, but can not
be identified by means of common laboratory diagnostic.

To ensure maximum test reliability, the test is always performed in two independent
test runs per sample.
Requirements
The test is performed out of EDTA whole blood (0.5 ml) or special cytobrushes.
These cytobrushes are available upon request and free of charge. Testing is
performed a few times per week. The results are due about 3-5 working days after
arrival of the sample in our laboratory.
For further information please contact Dr. Petra Kühnlein or Dr. Ines Langbein-
Detsch
LABOKLIN GmbH u. Co. KG, Steubenstraße 4, D-97688 Bad Kissingen
Phone: +49-971-72020, Fax: +49-971-7202995, Email: labogen@laboklin.de