A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions.

Matthias ChristenVeronica Gonzalo-NadalAdriana KaczmarskaMagdalena DyrkaJulien GuevarVidhya JagannathanTosso Leeb Rodrigo Gutierrez Quintana

Published in: Journal of veterinary internal medicine (2023)

We report the second pathogenic gene variant in L-2-hydroxyglutaric aciduria in cats and describe for the first time multicystic cerebral lesions on MRI.

Keyphrases

subarachnoid hemorrhage
copy number
genome wide
magnetic resonance imaging
genome wide identification
cerebral ischemia
contrast enhanced
brain injury