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What Causes Hyperammonemia?
Discussion Reye’s syndrome (RS)is named for Dr. Douglas Reye who along with Drs. G. Morgan and J. Baral described encephalopathy and fatty accumulation and degeneration in children in a 1963 Lancet article. RS usually affects children but can occur at all ages. All organs can be affected but the liver and brain are primarily affected causing liver failure and encephalopathy as toxic metabolites (especially ammonia) accumulate, and intracranial hypertension and cerebral edema occurs. As the ammonia levels begin to rise (> 100 mg/dL) patients lose their appetite, have nausea and emesis and mental status changes whic...
Source: PediatricEducation.org - February 20, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Identification of a novel TRPA1 mutation associated with carbamazepine-responsive cramp-fasciculation syndrome (S45.008)
Conclusions:Autosomal dominant CFS is associated with a novel mutation in the putative selectivity filter of TRPA1. These findings further clarify the functional role of human TRPA1, and underscore the importance of this ion channel as a potential therapeutic target.Study Supported by: This work was supported by the National Institute of Neurological Disorders and Stroke of the National Institute of Health (R01NS079388). MJN also receives support from the New York Stem Cell Foundation.Disclosure: Dr. Biller has nothing to disclose. Dr. Paisan-Ruiz has nothing to disclose. Dr. Gilbert has nothing to disclose. Dr. Chaouni ha...
Source: Neurology - April 17, 2017 Category: Neurology Authors: Biller, T. M., Paisan-Ruiz, C., Gilbert, R. M., Chaouni, R., Nirenberg, M. J. Tags: Peripheral Nerve Disorders Source Type: research