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L2-Hydroxyglutaric Aciduria (Yorkshire Terrier Type)
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,
