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L2- Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type) Overview

L2- Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type)
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: L2HGA on Chromosome 8

Variant Detected: Base Substitution c.1297T>C, c.1299C>T

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Test Overview: L-2 Hydroxyglutaric Aciduria is an inherited neurometabolic disorder. Affected dogs have increased levels of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid and progressive damage to the brain. L-2-HGA is an autosomal recessive metabolic disease that causes an increase in levels of the substance L-2-hydroxyglutaric acid in the blood, urine and CSF (the fluid around the brain and spinal cord). This substance is toxic to cells of the central nervous system, and causes muscle stiffness, tremors and seizures, a wobbly gait and altered behaviour. Signs usually appear at around 6 – 12 months of age, although it can occur later. A DNA test is available for Staffordshire Bull Terriers, but in other breeds diagnosis is through blood or urine tests to show elevated levels of L-2-HGA. There is no treatment available for this disease.

Research Citation(s):
J Vet Intern Med. 2003 Jul-Aug;17(4):551-6. [PubMed: 12892307]
Vet Rec. 2010 Sep 18; 167(12):455-7. [PubMed: 20852250]


Associated Breed(s): Staffordshire Bull Terrier ,  Yorkshire Terrier,  Mixed Breed,  Australian Terrier,  Shortybull,