€57,48 €47,50 excl. VAT
L-2-Hydroxyglutaric Aciduria (L-2-HGA) is a metabolic disorder that can cause neurological defects such as seizures, dementia, tremors and muscle stiffness.
10 working days
€5,95 shipping and administration per order (incl. VAT)
Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
L-2-Hydroxyglutaric Aciduria (L-2-HGA) is a metabolic disorder that can cause neurological defects such as seizures, dementia, tremors and muscle stiffness. It is caused by a recessive mutation to the gene L2HGDH. The variant of the disease analysed in this test occurs in the Yorkshire Terrier. A closely related variant known as ‘Staffy Cramp’ occurs in the Staffordshire Terrier.
Clinical features
Affected puppies present within the first few months of life with symptoms such as tonic-clonic seizures, periods of reduced alertness, and episodes of ataxia (loss of coordination). The disease is progressive.
Additional information
References
Pubmed ID: 22843824
Omia ID: 1371
Related products
-
- Vizsla
- SNX14
- Nervous system
-
- Cairn Terrier, Scottish Terrier, West Highland White Terrier
- SLC37A2
- Skeletal system
-
- Parson Russell Terrier, Jack Russell Terrier
- CAPN1
- Nervous system
-
- All Breeds
- None
