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/10.5326/0430163 | DOI Listing |
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 PDFSci 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 PDFHandb 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 PDFMol Genet Metab Rep
December 2024
Movement Disorders Division, Department of Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!