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Hyperammonaemic Encephalopathy Caused by Adult-Onset Ornithine Transcarbamylase Deficiency.
Brain Sci
February 2022
Department of Neurology, Odense University Hospital, J.B. Winsloewsvej 4, 5000 Odense, Denmark.
Hyperammonaemic encephalopathy in adults is a rare condition in the absence of liver disease and is associated with a high mortality and risk of permanent neurological deficits. Seldomly, the condition is caused by an inborn error of metabolism in the urea cycle, triggered by an exogenic factor such as gastrointestinal haemorrhage, gastric bypass surgery, starvation, seizures, vigorous exercise, burn injuries, or drugs hampering the elimination of ammonia. Here, we present a fatal case of an unrecognized genetic ornithine transcarbamylase deficiency (OTCD) presenting with a subacute progressive encephalopathy.
View Article and Find Full Text PDFAdult-onset ornithine transcarbamylase deficiency as a rare cause of fatal hyperammonaemia.
Lancet
August 2021
Department of Internal Medicine, State University of New York Upstate Medical University Hospital, Syracuse, NY, USA.
Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients.
J Inherit Metab Dis
September 2021
Laboratoire de Biochimie-Pharmacologie-Toxicologie, CHU Reims, France.
Urea cycle disorders (UCD) are rare diseases that usually affect neonates or young children. During decompensations, hyperammonemia is neurotoxic, leading to severe symptoms and even coma and death if not treated rapidly. The aim was to describe a cohort of patients with adult onset of UCDs in a multicentric, retrospective and descriptive study of French adult patients with a diagnosis after 16 years of age of UCDs due to a deficiency in one of the 6 enzymes (arginase, ASL, ASS, CPS1, NAGS, OTC) or the two transporters (ORNT1 or citrin).
View Article and Find Full Text PDFSaccharopinuria accompanied by hyperammonemia and hypercitrullinemia presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia.
Intractable Rare Dis Res
May 2021
Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
We report a case of saccharopinuria with hyperammonemia and hypercitrullinemia in a Japanese woman who presented with elderly-onset epilepsy, progressive cognitive decline, and gait ataxia. Blood amino acid analysis revealed an increase in citrulline, cystine, and lysine levels, and urine amino acid analysis showed increased citrulline and cystine levels. Urine metabolomics revealed an increased saccharopine level, leading to the definitive diagnosis of saccharopinuria.
View Article and Find Full Text PDFLate-onset ornithine transcarbamylase deficiency: a rare cause of recurrent abnormal behavior in adults.
Acute Med Surg
September 2020
Background: Ornithine transcarbamylase is an enzyme of the urea cycle, which produces urea from ammonia. Although ornithine transcarbamylase deficiency mainly occurs as a severe neonatal-onset disease, a late-onset form that could become symptomatic from infancy to adulthood is also known.
Case Presentation: A 34-year-old man presented with sudden onset of abnormal behavior, lethargy, and hyperammonemia (108 µmol/L).
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