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L2-Hydroxyglutaric Aciduria (Yorkshire Terrier Type)

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Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

L2HGDH

Variant Detected:

Chr. 8: c.1A>G p.(M1?)

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.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

https://pubmed.ncbi.nlm.nih.gov/22834903/

Associated Breed(s):

Yorkshire Terrier,

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