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Olivopontocerebellar degeneration associated with 3-hydroxy-3-methylglutaric aciduria in a domestic shorthair cat.

Natalie WestKaspar MatiasekClare Rusbridge
Published in: JFMS open reports (2021)
This is the first report of 3-hydroxy-3-methylglutaric aciduria in the veterinary literature and the first description of the neuropathology of this disorder in any species. 3-Hydroxy-3-methylglutaric aciduria in humans occurs rarely and is due to a deficiency in 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
Keyphrases
  • systematic review
  • replacement therapy
  • genetic diversity