An 18-year-old patient, who had polysplenia and single ventricle, presented with altered mental status 9 years after a Fontan-type operation and pacemaker implantation. He underwent replacement of common atrioventricular valve and aortic valve plasty 1 year previously and has been placed on multiple medications including beta-blocker for his poor ventricular function. Blood chemistry revealed h...

Title of Document: CHARACTERIZATION OF THE NACETYLGLUTAMATE SYNTHASE KNOCKOUT MOUSE, A NOVEL MODEL OF HYPERAMMONEMIA. Emilee Senkevitch, PhD, 2012 Directed By: Professor Mendel Tuchman, Department of Pediatrics, Children's National Medical Center, George Washington University Professor David Mosser, Department of Cell Biology and Molecular Genetics All knockout mouse models of urea cycle disord...

Optimal care of the neonate with hyperammonemia requires expertise in the evaluation, medical management, and decision to initiate dialytic therapy, and therefore compels expeditious collaboration between neonatal intensive care physicians, medical geneticists, and pediatric nephrologists. Neonatal and dialysis nursing expertise also is paramount for the successful provision of dialysis therapy...

We report an elderly male patient with hyperammonemia induced by intrahepatic portal-systemic shunt without cirrhosis (IPSSwoC). The occasional emergence of his erratic behaviors was misdiagnosed as a psychiatric disorder. Regardless of his uneven symptoms, IPSSwoC was suspected due to his hyperammonemia. The contrast computed tomography of the abdomen revealed a congenital type of IPSSwoC. As ...

Valproic acid and its derivatives are commonly used to treat many psychiatric conditions in the elderly. Hyperammonemia is a less common but important side effect of these drugs. The elderly patient appears highly vulnerable to this side effect of this group of medications. In this paper, we systematically review the published literature for hyperammonemia induced by valproic acid and its deriv...

BACKGROUND Hyperinsulinism-hyperammonemia syndrome is the second most common cause of congenital hyperinsulinism and is easily treated with diazoxide; however, the symptoms in our patient were very difficult to control with typical medical therapy. To the best of our knowledge, neither our patient's mutation, nor a case of hyperinsulinism-hyperammonemia presenting with dysmorphic features and i...

Drug repurposing is a therapeutic strategy that applies drugs to treat different diseases based on new therapeutic function. Carglumic acid (Carbaglu; Orphan Europe) is an orphan drug approved by the FDA for hyperammonemia. Administration of carglumic acid for treatment of hyperammonemia has few side effects and has been used for 10 years to effectively treat hyperammonemia symptoms of both adu...

The neuropsychological effect of hyperammonemia is variable. This study tests the hypothesis that the effect of ammonia on the neuropsychological function in patients with cirrhosis is determined by the ability of the brain to buffer ammonia-induced increase in glutamine within the astrocyte by losing osmolytes like myo-inositol (mI) and not by the magnitude of the induced hyperammonemia. Fourt...

Previous studies revealed that transient hyperammonemia was noted after generalized convulsion. This study was undertaken to analyze the association between postictal state and serum ammonia levels. Adult patients presenting to the emergency department with seizures were included. Serum ammonia and other blood tests were compared between patients with full recovery of consciousness after genera...