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H909

L-2-Hydroxyglutaric Aciduria (L-2-HGA) is a metabolic disorder that can cause neurological defects such as seizures, dementia, tremors and muscle stiffness.

Working days 10

Specifiche

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

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.

Caratteristiche cliniche

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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 22843824

Omia ID: 1371

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