Hyperammoniemic encephalopathy is part of the differential -diagnosis in the presence of an acute confusional state. Although associated with liver dysfunction in the majority of cases, it can be observed in many other clinical situations. Often not investigated, the dosage of ammonium in the blood should be integrated in the biological work-up of encephalopathy of unknown origin. Mana-gement focused on etiology is paramount and usually allows for the rapid normalization of ammonium levels and resolution of the clinical syndrome.
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[Hyperammoniemic encephalopathy: beyond the hepatic cause].
Rev Med Suisse
October 2024
Service de médecine interne générale, Département de médecine, Hôpitaux universitaires de Genève, 1211 Genève 14.
Hyperammoniemic encephalopathy is part of the differential -diagnosis in the presence of an acute confusional state. Although associated with liver dysfunction in the majority of cases, it can be observed in many other clinical situations. Often not investigated, the dosage of ammonium in the blood should be integrated in the biological work-up of encephalopathy of unknown origin.
View Article and Find Full Text PDFHeadache and neuropsychic disorders in the puerperium: a case report with suspected deficiency of urea cycle enzymes.
Neurol Sci
May 2011
Headache Center, Neurology Department, G. Salvini Hospital, AO G. Salvini, Viale Forlanini, 121, 20200 Garbagnate Milanese (MI), Italy.
An enzymatic abnormality of the urea cycle is a metabolic disorder occasionally seen in adults, but particularly in the puerperium. The main risk is acute hyperammoniemic encephalopathy, leading to psychosis, coma and even death if not diagnosed promptly and treated appropriately. Headache is frequent in the puerperium normally manifesting between 3 and 6 days after delivery.
View Article and Find Full Text PDF[Ornithine transcarbamylase deficiency in adult].
Rev Med Interne
October 2010
Médecine interne orientée vers les maladies orphelines et systémiques, Tour Drouet, hôpitaux de Brabois, CHU de Nancy, 54511 Vandœuvre cedex, France.
Introduction: Ornithine transcarbamylase (OTC) deficiency is a X-linked inherited disorder characterized by hyperammoniemic encephalopathy in male neonates. However, there is an increased evidence of late-onset disease, including in adults.
Case Reports: A 23-year-old woman presented with vomiting, somnolence, confusion and hyperammonemia.
Persistent hyperinsulinemic hypoglycemia presenting with a rare complication: West syndrome.
J Pediatr Endocrinol Metab
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Department of' Pediatric Endocrinology, Gazi University, Ankara, Turkey.
Background: Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is characterized by disproportional secretion of insulin from pancreatic beta-cells. Although one of the manifestations of hypoglycemia is West syndrome, it is rarely reported in PHHI.
Patient Report: A 6 month-old girl who was followed up with the diagnosis of PHHI was admitted to hospital with the complaint of jerky movements at her extremities.
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