Peer-reviewed veterinary case report
L-2-Hydroxyglutaric aciduria causing seizures and tremors
By Abramson, Carley J et al.·Published in Journal of veterinary internal medicine·2003·Neurology Unit, United Kingdom·View original on PubMed →
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Original publication title: L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers.
- Species:
- cattle
Plain-English summary
Six Staffordshire Bull Terriers were brought to the vet with symptoms like seizures, tremors, ataxia (loss of coordination), and dementia. Tests showed high levels of L-2-hydroxyglutaric acid in their urine, plasma, and cerebrospinal fluid, confirming a rare metabolic disorder. This condition, which has been known in humans, had not been previously identified in dogs. The findings help establish a veterinary model for understanding this disease better, although the specific treatment options for these dogs were not detailed in the study.
People also search for: Staffordshire Bull Terrier seizures · dog tremors treatment · L-2-hydroxyglutaric aciduria in dogs
Abstract
L-2-Hydroxyglutaric aciduria is an inborn error of metabolism, which has been recognized in humans since 1980. The metabolic defect responsible for the disease is unknown, but the disorder can be diagnosed in humans by elevations of the organic acid, L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF), plasma, and urine of affected patients. The disorder produces a variety of clinical neurological defects in humans including psychomotor retardation, seizures, and ataxia. There have previously been no recognized animal models of the disease. However, 6 Staffordshire Bull Terriers were recently identified with the disorder. The animals presented with a variety of clinical signs, most notably seizures, ataxia, dementia, and tremors. They were all screened for organic acid abnormalities in urine, and CSF and plasma (when available). Levels of L-2-hydroxyglutaric acid were elevated in all body fluids evaluated. The clinical, clinicopathologic, and magnetic resonance imaging (MRI) characteristics associated with L-2-hydroxyglutaric acid in Stafforshire Bull Terriers is reported herein and represents the first veterinary model of this inborn error of metabolism.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/12892307/