We have located links that may give you full text access.
CASE REPORTS
JOURNAL ARTICLE
RESEARCH SUPPORT, N.I.H., EXTRAMURAL
Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.
Pediatric Neurology 2010 January
Individuals with a proximal urea cycle disorder, such as carbamoyl phosphate synthetase deficiency 1 or ornithine transcarbamylase deficiency, may present with encephalopathy resulting from hyperammonemia. The clinical presentation of arginase deficiency is considerably different, characterized by progressive spasticity involving the lower extremities and usually dementia. Diagnosis may be delayed, and patients are often thought to have cerebral palsy. The true etiology of brain injury in arginase deficiency is unknown, but is not thought to be due to hyperammonemia and brain swelling, the mechanism of injury recognized in ornithine transcarbamylase deficiency. Elevated arginine could augment nitric oxide synthesis, leading to oxidative damage. The hypothesis for the present study was that specific brain vulnerability in arginase deficiency would involve microstructural alterations in corticospinal tracts and that this finding, as measured by diffusion tensor imaging, would differ from age-matched control subjects and those with ornithine transcarbamylase deficiency. Diffusion tensor imaging data were compared for a 17-year-old male patient with arginase deficiency, age-matched normal control subjects, and age-matched individuals with ornithine transcarbamylase deficiency. Significant differences were found in suspected areas of interest, specifically in the corticospinal tracts. This finding confirms the hypothesis that the mechanism of injury in arginase deficiency, although still unknown, is unlikely to be similar to that causing ornithine transcarbamylase deficiency.
Full text links
Related Resources
Trending Papers
Proximal versus distal diuretics in congestive heart failure.Nephrology, Dialysis, Transplantation 2024 Februrary 30
Efficacy and safety of pharmacotherapy in chronic insomnia: A review of clinical guidelines and case reports.Mental Health Clinician 2023 October
World Health Organization and International Consensus Classification of eosinophilic disorders: 2024 update on diagnosis, risk stratification, and management.American Journal of Hematology 2024 March 30
Anti-Arrhythmic Effects of Heart Failure Guideline-Directed Medical Therapy and Their Role in the Prevention of Sudden Cardiac Death: From Beta-Blockers to Sodium-Glucose Cotransporter 2 Inhibitors and Beyond.Journal of Clinical Medicine 2024 Februrary 27
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app