Refractory seizures associated with an organic aciduria in a dog.

J Am Anim Hosp Assoc

Department of Small Animal Medicine, College of Veterinary Medicine, University of Georgia, Athens, Georgia 30602-7390, USA.

Published: May 2007

A 6-month-old, female Cavalier King Charles spaniel exhibited seizures that were difficult to control with standard anticonvulsants over a 12-month period. The diagnosis of an organic aciduria with excessive excretion of hexanoylglycine was determined when the dog was 20 months old. Recurrent and cluster seizures were eventually controlled with the addition of levetiracetam to potassium bromide and phenobarbital.

Download full-text PDF

Source
http://dx.doi.org/10.5326/0430163DOI Listing

Publication Analysis

Top Keywords

organic aciduria
8
refractory seizures
4
seizures associated
4
associated organic
4
aciduria dog
4
dog 6-month-old
4
6-month-old female
4
female cavalier
4
cavalier king
4
king charles
4

Similar Publications

Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes.

Mol Genet Metab

December 2024

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong, China.

The 3-methylglutaconic aciduria (3-MGA-uria) syndromes comprise a heterogeneous group of inborn errors of metabolism defined biochemically by detectable elevation of 3-methylglutaconic acid (3-MGA) in the urine. In type 1 (or primary) 3-MGA-uria, distal defects in the leucine catabolism pathway directly cause this elevation. Secondary 3-MGA-uria syndromes, however, are unrelated to leucine metabolism-specific defects but share a common biochemical phenotype of elevated 3-MGA.

View Article and Find Full Text PDF

Renal phenotyping in a hypomorphic murine model of propionic aciduria reveals common pathomechanisms in organic acidurias.

Sci Rep

December 2024

Department of General Paediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center, University of Freiburg, Breisacherstr. 62, 79106, Freiburg, Germany.

Mutations in the mitochondrial enzyme propionyl-CoA carboxylase (PCC) cause propionic aciduria (PA). Chronic kidney disease (CKD) is a known long-term complication. However, good metabolic control and standard therapy fail to prevent CKD.

View Article and Find Full Text PDF

White matter abnormalities in amino acid disorders and organic acidurias.

Handb Clin Neurol

September 2024

Department of Clinical Sciences, University of Lund, Lund, Sweden; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Department of Genetics and Neurology, Groningen, The Netherlands. Electronic address:

Inborn errors of metabolism (IEMs) are traditionally the domain of pediatricians and internists for metabolic diseases. In general, neurologists only become involved when these disorders are complicated by neurologic symptoms such as seizures, developmental delay, or motor problems. However, in recent years and mainly due to the successes of next-generation sequencing, the number of IEMs primarily presenting with neurologic symptoms and not detected by classic biochemical testing has grown significantly.

View Article and Find Full Text PDF
Article Synopsis
  • L-2 hydroxyglutaric aciduria (L-2-HGA) is a rare genetic disorder that leads to various neurological symptoms and requires careful diagnosis for effective treatment.
  • In a case series of three patients, symptoms included febrile seizures, hyperactivity, and intellectual challenges, with one case showing cervical dystonia.
  • Brain MRIs of two patients revealed distinctive patterns associated with L-2-HGA, emphasizing the need for increased awareness and early diagnosis to enable the use of management strategies like riboflavin, levocarnitine, and dietary changes.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!