AI Article Synopsis
- L-2-hydroxyglutaric aciduria (L2HGA) is a neurodegenerative disease mainly causing developmental delays and cerebellar issues, reported in 29 patients from 22 families.
- The average diagnosis age was 13.4 years, and patients showed lasting symptoms, including mental retardation, ataxic gait, and seizures, with a follow-up period averaging four years.
- Diagnosis relied on high urinary levels of L-2-hydroxyglutaric acid and specific MRI patterns, and further research is ongoing to understand the metabolic defect involved.
Article Abstract
L-2-hydroxyglutaric aciduria (L2HGA) is a chronic slowly progressive neurodegenerative disease characterized mainly by psychomotor developmental delay and cerebellar dysfunction. We report the clinical, biochemical, and neuroimaging features of 29 patients from 22 families. The mean age at the time of diagnosis was 13.4 years (2.5-32 years). The mean follow-up period of patients was four years (1.5-16 years). The main clinical findings were mental retardation and cerebellar involvement with ataxic gait and intentional tremor. Additional findings were mental retardation, macrocephaly and seizures. Diagnosis was confirmed by increased urinary excretion of L-2-hydroxyglutaric acid in all patients and highly specific magnetic resonance imaging (MRI) pattern showing subcortical leukoencephalopathy with bilateral high signal intensity in dentate nuclei and putamens. During the follow-up period, all patients had a static encephalopathy course. The underlying metabolic defect and the possible role of L-2-hydroxyglutaric acid are studied in a subgroup of these families and under evaluation for publication.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53.
Cell Death Differ
December 2024
Georgetown University Medical Center, Lombardi Comprehensive Cancer Center, Washington, D.C., USA.
Germline inactivating mutations of the SLC25A1 gene contribute to various human disorders, including Velocardiofacial (VCFS), DiGeorge (DGS) syndromes and combined D/L-2-hydroxyglutaric aciduria (D/L-2HGA), a severe systemic disease characterized by the accumulation of 2-hydroxyglutaric acid (2HG). The mechanisms by which SLC25A1 loss leads to these syndromes remain largely unclear. Here, we describe a mouse model of SLC25A1 deficiency that mimics human VCFS/DGS and D/L-2HGA.
View Article and Find Full Text PDFThe broad spectrum of clinical manifestations observed in three patients with L2 hydroxyglutaric aciduria spans from febrile seizures to complex dystonia.
Mol Genet Metab Rep
December 2024
Movement Disorders Division, Department of Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
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.
Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats.
Front Vet Sci
July 2024
VetOracle, Norfolk, United Kingdom.
Article Synopsis
- Metabolic/neurodegenerative encephalopathies cover various conditions in dogs and cats that have similar MRI features, complicating accurate diagnosis and often requiring multiple tests.
- This study aimed to analyze MRI characteristics, classify conditions based on gray and white matter involvement, and compare findings with existing literature, involving 100 cases (81 dogs and 19 cats).
- Notable findings included unusual MRI patterns, such as cerebellar nuclei changes in hepatic encephalopathy and specific white matter involvement in myelinolysis, along with unique effects of thiamine deficiency on various brain structures.
Novel neuropathological findings in a long-term survivor of D-2-hydroxyglutaric aciduria type 1.
Virchows Arch
September 2024
Krembil Discovery Tower, Tanz Centre for Research in Neurodegenerative Disease, University of Toronto, 60 Leonard Ave, Toronto, ON, M5T 0S8, Canada.
Focal dystonia in an adult with L-2- hydroxyglutaric aciduria.
Saudi Med J
July 2024
From the Neurology Department (Saleem), Al-Iman General Hospital; from the Radiology Department (Ul Islam), King Salman Hospital; form the Laboratory Department (Tasbahji), Al-Iman General Hospital, Riyadh, Kingdom of Saudi Arabia.
L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare disorder. The patients have psychomotor retardation, ataxia, macrocephaly, and epilepsy usually in childhood. We present a case of L-2-HGA who developed dystonia in the third decade of life.
View Article and Find Full Text PDFWant 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!