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

Christen, Matthias; Gonzalo-Nadal, Veronica; Kaczmarska, Adriana; Dyrka, Magdalena; Guevar, Julien; Jagannathan, Vidhya; Leeb, Tosso; Gutierrez-Quintana, Rodrigo (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. Wiley 10.1111/jvim.16675

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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:

Journal Article (Further Contribution)

Division/Institute:

09 Interdisciplinary Units > Next Generation Sequencing (NGS) Platform
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV)
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > Small Animal Clinic
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

Graduate School:

Graduate School for Cellular and Biomedical Sciences (GCB)

UniBE Contributor:

Christen, Matthias (A), Guevar, Julien Jean, Jagannathan, Vidya, Leeb, Tosso

Subjects:

500 Science > 570 Life sciences; biology
500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health

ISSN:

1939-1676

Publisher:

Wiley

Language:

English

Submitter:

Pubmed Import

Date Deposited:

08 Mar 2023 11:24

Last Modified:

23 Aug 2023 15:41

Publisher DOI:

10.1111/jvim.16675

PubMed ID:

36880414

Uncontrolled Keywords:

Felis catus animal model genetics glutaric aciduria neurology precision medicine

BORIS DOI:

10.48350/179674

URI:

https://boris.unibe.ch/id/eprint/179674

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