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L-2-Hydroxyglutaric Aciduria (L-2-HGA) is a metabolic disorder that can cause neurological defects such as seizures, dementia, tremors and muscle stiffness.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Mode of Inheritance | Autosomique récessif |
| Chromosome | 8 |
| Also known as | L-2-HGA; L2HGA; Staffy Cramp |
| Year Published |
Informations générales
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.
Caractéristiques cliniques
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
Références
Pubmed ID: 22843824
Omia ID: 1371