Results 1 to 10 of about 41,178 (242)

Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia

JIMD Reports, 2021
Argininosuccinate lyase deficiency (ASLD, MIM #207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life‐threatening hyperammonemia, and a late‐onset form characterised by polymorphic
Laurent Leuger, Xavier Dieu, Juan Manuel Chao de la Barca, Mikael Moriconi, Guillaume Halley, Xavier Donin de Rosière, Pascal Reynier, Delphine Mirebeau‐Prunier, Chadi Homedan   +8 more
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Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

Molecular Genetics & Genomic Medicine
Background Ornithine transcarbamylase deficiency (OTCD) due to an X‐linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality.
Kuntal Sen, Rima Izem, Yuelin Long, Jiji Jiang, Laura L. Konczal, Robert J. McCarter, Members of the Urea Cycle Disorders Consortium (UCDC), Andrea L. Gropman, Jirair K. Bedoyan   +8 more
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Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

Orphanet Journal of Rare Diseases, 2019
Background The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examined at a ...
Silene M. Silvera-Ruiz, José A. Arranz, Johannes Häberle, Celia J. Angaroni, Miriam Bezard, Norberto Guelbert, Adriana Becerra, Fernanda Peralta, Raquel Dodelson de Kremer, Laura E. Laróvere   +9 more
doaj   +1 more source

Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity

Annals of Indian Academy of Neurology, 2016
Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures.
Boby Varkey Maramattom, Rajat Raja, Anuroop Balagopal   +2 more
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Urea cycle disorder

Mental Health Clinician, 2013
Urea cycle disorder is a rare genetic disorder in which there is a full or partial deficiency in the enzymes of the urea cycle, causing a defect in the metabolism of excess nitrogen, and leading to hyperammonemia. This article reviews the clinical presentation, diagnosis, treatment, and drug-disease state implications of urea cycle disorders.
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Functional Characterization of Hepatocytes for Cell Transplantation: Customized Cell Preparation for Each Receptor

Cell Transplantation, 2010
The first indication of hepatocyte transplantation is inborn liver-based metabolic disorders. Among these, urea cycle disorders leading to the impairment to detoxify ammonia and Crigler-Najjar Syndrome type I, a deficiency in the hepatic UDP ...
A. Bonora-Centelles, M. T. Donato, A. Lahoz, E. Pareja, J. Mir, J. V. Castell, M. J. Gómez-Lechón   +6 more
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Prospective treatment of urea cycle disorders

The Journal of Pediatrics, 1991
We present a diagnostic and therapeutic protocol designed to prevent clinical expression of inborn errors of urea synthesis in the neonatal period, and discuss the long-term developmental outcome of survivors. The families of 32 infants, among 43 identified prenatally as being at risk for a urea cycle disorder, chose to have their infants treated ...
N E, Maestri, E R, Hauser, D, Bartholomew, S W, Brusilow   +3 more
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Adult Onset Hyperammonemia: Case Report and Review of Literature

Case Reports in Gastroenterology
Introduction: Hyperammonemia is a life-threatening condition most associated with liver disease, though non-cirrhotic causes are increasingly recognized.
Zehra Naseem, Amala Alenchery, Sarah Yuann Kim, Omar T. Sims, Kadakkal Radhakrishnan, Sobia Nasir Laique   +5 more
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Metabolic reprogramming of the urea cycle pathway in experimental pulmonary arterial hypertension rats induced by monocrotaline

Respiratory Research, 2018
Background Pulmonary arterial hypertension (PAH) is a rare systemic disorder associated with considerable metabolic dysfunction. Although enormous metabolomic studies on PAH have been emerging, research remains lacking on metabolic reprogramming in ...
Hai-Kuo Zheng, Jun-Han Zhao, Yi Yan, Tian-Yu Lian, Jue Ye, Xiao-Jian Wang, Zhe Wang, Zhi-Cheng Jing, Yang-Yang He, Ping Yang   +9 more
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Diagnosis of Urea Cycle Disorders [PDF]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1977
T, Palmer, V G, Oberholzer
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