UNLABELLED Patients and families living with metabolic disorders face challenging dietary and drug treatment regimens. On the hypothesis that poor palatability, volume and frequency of drug/formula administration contribute to treatment non-adherence and hyperammonemic episodes, a survey was conducted of patient, caregiver (CG) and physician perspectives on treatments used in urea cycle disorde...

The anticonvulsant agent valproate (VPA) may cause hyperammonemic encephalopathy. Magnetic resonance imaging (MRI) and proton MR spectroscopic (MRS) findings in a patient with VPA-induced hyperammonemic encephalopathy are described. MRI showed a metabolic-toxic lesion pattern with bilateral T2-hyperintense lesions in the cerebellar white matter and in the globus pallidus. MR spectroscopic findi...

TOPIC: Critical Care TYPE: Fellow Case Reports INTRODUCTION: In the US prevalence of obesity has risen to 39.8% and affected about 93.3 million adults in 2015. Morbidly obese patients are increasingly pursuing bariatric surgery. While benefits surgery numerous, it is important recognize understand short term long postoperative complications. Hyperammonemic syndrome an uncommon but severe compli...

defining the patient outcome and decision making about allocation of our limited fund and technology for comatose patients depends on our knowledge about frequency and outcome of various coma etiologies. we determined the various coma causes frequency and one-month outcome of non traumatic coma. . in addition the co existence of the primary neurologic signs with the one-month outcome of non tra...

A 55-year-old man with cirrhosis presented with hyperammonemic encephalopathy, subsequently fatal (plasma ammonia level 410 M/L). Three-Tesla MRI initially showed restricted diffusion (figure 1A) in the cerebral cortex, suggesting poor prognosis,1 thalami, and striatum. Apparent diffusion coefficient pseudonormalized 8 days after admission (figure 1B), comparable to the evolution of hypoxic enc...

BACKGROUND Citrin, encoded by SLC25A13, is a component of the malate-aspartate shuttle, which is the main NADH-transporting system in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), which usually resolves within the first year of life. However, small numbers of adults with citrin deficiency develop hyperammonemic encephalopathy, adult-onset type II citrullinemia (...

Background: Transient hyperammonemia of the newborn (THAN) is an overwhelming condition presenting with coma within 2-3 days of life and requiring immediate treatment. The etiology of this condition remains unknown. Duration of coma determines the degree of neurologic impairment and developmental delay in hyperammonemia. Case report: A newborn (BW=2900 g) was presented with a clear prenatal an...

Patients with liver cirrhosis can develop hyperammonemia and hepatic encephalopathy (HE), accompanied by pronounced daytime sleepiness. Previous studies with healthy volunteers show that experimental increase in blood ammonium levels increases sleepiness and slows the waking electroencephalogram. As ammonium increases adenosine levels in vitro, and adenosine is a known regulator of sleep/wake h...