Hyperammonemia after capecitabine associated with occult impairment of the urea cycle
Sign Up to like & getrecommendations! Published in 2019 at "Cancer Medicine"
DOI: 10.1002/cam4.2036
Abstract: Cancer patients receiving chemotherapy often complain of “chemobrain” or cognitive impairment, but mechanisms remain elusive. read more here.
Keywords: associated occult; occult impairment; capecitabine associated; urea cycle ... See more keywords
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12031
Abstract: To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts. read more here.
Keywords: combined comparative; comparative data; cycle disorders; urea cycle ... See more keywords
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12474
Abstract: Amino acids, the building blocks of proteins in the cells and tissues, are of fundamental importance for cell survival, maintenance, and proliferation. The liver plays a critical role in amino acid metabolism and detoxication of… read more here.
Keywords: cycle; urea cycle; associated lethality; hyperammonemia associated ... See more keywords
The role and control of arginine levels in arginase 1 deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12564
Abstract: Arginase 1 Deficiency (ARG1‐D) is a rare urea cycle disorder that results in persistent hyperargininemia and a distinct, progressive neurologic phenotype involving developmental delay, intellectual disability, and spasticity, predominantly affecting the lower limbs and leading… read more here.
Keywords: arginine levels; urea cycle; arginine; arginase deficiency ... See more keywords
Gene therapy for Urea Cycle Defects: an update from historical perspectives to future prospects.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12609
Abstract: Urea cycle defects are severe inherited metabolic diseases with high unmet needs, which present a permanent risk of hyperammonaemic decompensation and subsequent acute death or neurological sequelae, when treated with conventional dietetic and medical therapies.… read more here.
Keywords: gene; urea cycle; cycle defects; gene therapy ... See more keywords
The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-018-0157-4
Abstract: Neonatal onset hyperammonemia in patients with urea cycle disorders (UCDs) is still associated with high morbidity and mortality. Current protocols consistently recommend emergency medical and dietary management. In case of increasing or persistent hyperammonemia, with… read more here.
Keywords: neonatal onset; cycle disorders; urea cycle; ammonia levels ... See more keywords
Fifteen years of urea cycle disorders brain research: Looking back, looking forward.
Sign Up to like & getrecommendations! Published in 2021 at "Analytical biochemistry"
DOI: 10.1016/j.ab.2021.114343
Abstract: Urea cycle disorders (UCD) are inherited diseases resulting from deficiency in one of six enzymes or two carriers that are required to remove ammonia from the body. UCD may be associated with neurological damage encompassing… read more here.
Keywords: research; fifteen years; cycle disorders; urea cycle ... See more keywords
Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures
Sign Up to like & getrecommendations! Published in 2018 at "Cell"
DOI: 10.1016/j.cell.2018.07.019
Abstract: The urea cycle (UC) is the main pathway by which mammals dispose of waste nitrogen. We find that specific alterations in the expression of most UC enzymes occur in many tumors, leading to a general… read more here.
Keywords: dysregulation generates; cycle dysregulation; generates clinically; cycle ... See more keywords
Virus-Induced Interferon Regulates the Urea Cycle.
Sign Up to like & getrecommendations! Published in 2019 at "Immunity"
DOI: 10.1016/j.immuni.2019.11.012
Abstract: Integrating transcriptomic, proteomic, and metabolomic data, Lercher et al. show in a mouse model of LCMV infection that type I interferon alters the expression and function of key enzymes of the urea cycle in hepatocytes. This… read more here.
Keywords: induced interferon; interferon; urea cycle; virus induced ... See more keywords
Peak hyperammonemia and atypical acute liver failure: The eruption of an urea cycle disorder during hyperemesis gravidarum.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of hepatology"
DOI: 10.1016/j.jhep.2017.09.009
Abstract: Inborn urea cycle disorders are under-recognised metabolic causes of hyperammonemia in adults. A 28-year-old primigravida, seven weeks pregnant, affected by hyperemesis gravidarum developed acute liver injury (ALI) and then acute liver failure (ALF) in less… read more here.
Keywords: liver failure; hyperammonemia; acute liver; hyperemesis gravidarum ... See more keywords
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pharmaceutical and biomedical analysis"
DOI: 10.1016/j.jpba.2019.112798
Abstract: PURPOSE Salts of phenylacetic acid (PAA) and phenylbutyric acid (PBA) have been used for nitrogen elimination as a treatment for hyperammonaemia caused by urea cycle disorders (UCD). A new analytical method for PBA measurement in… read more here.
Keywords: treatment; pba; cycle disorders; urea cycle ... See more keywords