Loading...

home
Order Tests for Dogs
DNA Tests
L2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type) - Variant 2

Description

L2- Hydroxyglutaric Aciduria (L2-HGA) is an inherited neurometabolic disorder affecting dogs. 
Affected dogs have a mutation in the Enzyme that breaks down L2-hydroxyglutaric acid resulting in increased levels of L2-hydroxyglutaric acid in urine, blood and Cerebrospinal Fluid and progressive damage to the brain. 
Affected dogs typically present with symptoms of neurologic disease including “wobbly” gait, tremors, seizures, muscle stiffness with exercise or excitement and changes in behaviour between 4 months and one year of age.
In some cases, affected dogs do not present with disease until later in life.

Recommended Breeding

Diseases

L2-Hydroxyglutaric Aciduria (Staffordshire Bull Terrier Type) - Variant 2

$ 50.00

1

Associated Breed(s):

Click here to view Associated Breeds

Labels:

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Gene:

L2HGDH

Variant Detected:

chr8:26723470 (canFam3): C>T; chr8:26723472 (canFam3): T>C

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

Click to View Full OMIA Reference