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

Christen, M., Gonzalo-Nadal, V., Kaczmarska, A., Dyrka, M., Guevar, J., Jagannathan, V., Leeb, T. and Gutierrez-Quintana, R. (2023) A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions. Journal of Veterinary Internal Medicine, 37(2), pp. 676-680. (doi: 10.1111/jvim.16675) (PMID:36880414) (PMCID:PMC10061192)

Abstract

Case Description: A 9-month-old intact male domestic shorthair cat was evaluated for increasing frequency of generalized tonic-clonic seizures. Clinical Findings: The cat was reported to have had episodes of circling between the seizures. Upon examination, the cat had bilateral inconsistent menace response but otherwise normal physical and neurological examinations. Diagnostics: Magnetic resonance imaging (MRI) of the brain identified multifocal, small, rounded intra-axial lesions within the subcortical white matter containing fluid with similar characteristics as cerebrospinal fluid. Evaluation of urine organic acids showed increased excretion of 2-hydroxyglutaric acid. An XM_023255678.2:c.397C>T nonsense variant in the L2HGDH gene encoding L-2-hydroxyglutarate dehydrogenase was identified using whole genome sequencing. Treatment and Outcome: Levetiracetam treatment was initiated at 20 mg/kg PO q8h, but the cat died after a seizure 10 days later. Clinical Relevance: 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.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Dyrka, Magdalena and Kaczmarska, Mrs Adriana and Gonzalo Nadal, Veronica and Gutierrez Quintana, Mr Rodrigo
• Authors: Christen, M., Gonzalo-Nadal, V., Kaczmarska, A., Dyrka, M., Guevar, J., Jagannathan, V., Leeb, T., and Gutierrez-Quintana, R.
• College/School: College of Medical Veterinary and Life Sciences > School of Biodiversity, One Health & Veterinary Medicine
• Journal Name: Journal of Veterinary Internal Medicine
• Publisher: Wiley
• ISSN: 0891-6640
• ISSN (Online): 1939-1676
• Published Online: 07 March 2023
• Copyright Holders: Copyright © 2023 The Authors
• First Published: First published in Journal of Veterinary Internal Medicine 37(2): 676-680
• Publisher Policy: Reproduced under a Creative Commons license