ArticleJFMS open reports
2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat.
Article in JFMS open reports. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- 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 · 2023Article
- Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
case summaryA 14-month-old male castrated domestic shorthair cat, which 2 months prior to presentation underwent hindlimb amputation following a road traffic accident, presented for investigation of four suspected generalised tonic-clonic seizures. Neurological examination was unremarkable. Routine blood work (haematology, biochemistry, ammonia, preprandial bile acids) was unremarkable. MRI of the brain identified marked symmetrical T2-weighted hyperintensities of the cerebellum and brainstem, mainly affecting the grey matter. Urine amino acid and mucopolysaccharide levels were unremarkable. Urine organic acids on two separate samples, 35 days apart, identified highly increased excretion of 2-hydroxyglutaric acid, indicative of 2-hydroxyglutaric aciduria. The cat was started on anticonvulsant therapy with phenobarbitone, which, at the point of writing, has improved seizure control, although the cat has not achieved seizure freedom. RELEVANCE AND NOVEL INFORMATION: This case report describes the first reported case of a 2-hydroxyglutaric aciduria, an inherited neurometabolic disorder, as a cause for seizure-like episodes in a cat.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.