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Unmet Needs of Parents of Children with Urea Cycle Disorders [PDF]

Children, 2022
(1) Background: Phenotypic diversity and long-term health outcomes of individuals with urea cycle disorders (UCDs) have been described in detail. However, there is limited information on the burden on affected families.
Mara Scharping, Heiko Brennenstuhl, Sven F. Garbade, Beate Wild, Roland Posset, Matthias Zielonka, Stefan Kölker, Markus W. Haun, Thomas Opladen   +8 more
doaj   +2 more sources

Urea cycle disorders-update

Journal of Human Genetics, 2019
The urea cycle is a metabolic pathway for the disposal of excess nitrogen, which arises primarily as ammonia. Nitrogen is essential for growth and life-maintenance, but excessive ammonia leads to life-threatening conditions.
Häberle, Johannes, Endo, Fumio, Matsumoto, Shirou; https://orcid.org/, Shirou Matsumoto, Fumio Endo, Johannes Häberle, Hiroshi Mitsubuchi, Kido, Jun; https://orcid.org/, Mitsubuchi, Hiroshi, Nakamura, Kimitoshi, Jun Kido, Kimitoshi Nakamura, Matsumoto S, Kido J, Endo F, Nakamura K, Mitsubuchi H, Häberle J   +17 more
core   +4 more sources

Management of late onset urea cycle disorders—a remaining challenge for the intensivist? [PDF]

Annals of Intensive Care, 2021
Background Hyperammonemia caused by a disorder of the urea cycle is a rare cause of metabolic encephalopathy that may be underdiagnosed by the adult intensivists because of its rarity.
S. Redant, A. Empain, A. Mugisha, P. Kamgang, R. Attou, P. M. Honoré, D. De Bels   +6 more
doaj   +2 more sources

Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives

Patient Preference and Adherence, 2017
Luis Peña-Quintana,1–3 Marta Llarena,2 Desiderio Reyes-Suárez,2 Luis Aldámiz-Echevarria4 1Pediatric Gastroenterology, Hepatology, and Nutrition Unit, Universitario Materno-Infantil Hospital de Canarias, University of Las ...
Peña-Quintana L, Llarena M, Reyes-Suárez D, Aldámiz-Echevarria L   +3 more
doaj   +3 more sources

Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening [PDF]

International Journal of Neonatal Screening, 2020
Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (OTCD)
Tania Vasquez-Loarte, John D. Thompson, J. Lawrence Merritt   +2 more
doaj   +2 more sources

The Urea Cycle Disorders

, 2017
The urea cycle is the primary nitrogen disposal pathway in humans. The urea cycle requires the coordinated function of six enzymes and two mitochondrial transporters to catalyze the conversion of a molecule of ammonia, the α-nitrogen of aspartate and ...
Belen Pappa, Nicholas Ah Mew, Andrea L. Gropman   +2 more
core   +2 more sources

Physical, cognitive, and social status of patients with urea cycle disorders in Japan [PDF]

Molecular Genetics and Metabolism Reports, 2021
Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we conducted a nationwide study between January 2000 and March 2018 to understand the present status ...
Jun Kido, Shirou Matsumoto, Tetsuya Ito, Shinichi Hirose, Kaori Fukui, Kanako Kojima-Ishii, Yuichi Mushimoto, Shinobu Yoshida, Mika Ishige, Norio Sakai, Kimitoshi Nakamura   +10 more
doaj   +2 more sources

Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders [PDF]

Molecular Genetics and Metabolism Reports, 2021
Urea cycle disorders (UCDs), inborn errors of hepatocyte metabolism, cause hyperammonemia and lead to neurocognitive deficits, coma, and even death. Sodium 4-phenylbutyrate (NaPB), a standard adjunctive therapy for UCDs, generates an alternative pathway ...
Yoko Nakajima, Shuhei Osaka, Tadahaya Mizuno, Katsuyuki Yokoi, Satoshi Nakano, Saeko Hirai, Yuka Hiraoka, Yoshiki Miura, Mitsuyoshi Suzuki, Hiroyuki Kusuhara, Hisamitsu Hayashi   +10 more
doaj   +2 more sources

First-in-human clinical study of an embryonic stem cell product for urea cycle disorders [PDF]

Stem Cell Research & Therapy
Background This study assesses the safety and efficacy of hepatocyte-like cell (HLC) infusion therapy derived from human embryonic stem cells as bridging therapy for neonatal-onset urea cycle disorders (UCD).
Akihiro Umezawa, Akinari Fukuda, Reiko Horikawa, Hajime Uchida, Shin Enosawa, Yoshie Oishi, Naoko Nakamura, Kengo Sasaki, Yusuke Yanagi, Seiichi Shimizu, Toshimasa Nakao, Tasuku Kodama, Seisuke Sakamoto, Itaru Hayakawa, Saeko Akiyama, Noriaki Saku, Shoko Miyata, Kenta Ite, Palaksha Kanive Javaregowda, Masashi Toyoda, Hidenori Nonaka, Kazuaki Nakamura, Yoshikazu Ito, Yasuyuki Fukuhara, Osamu Miyazaki, Shunsuke Nosaka, Kazuhiko Nakabayashi, Chizuko Haga, Takako Yoshioka, Akira Masuda, Takashi Ohkura, Mayu Yamazaki-Inoue, Masakazu Machida, Rie Abutani-Sakamoto, Shoko Miyajima, Hidenori Akutsu, Yoichi Matsubara, Takashi Igarashi, Mureo Kasahara   +38 more
doaj   +2 more sources

Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate

Molecular Genetics and Metabolism Reports, 2015
Urinary phenylacetylglutamine (U-PAGN) concentrations in spot urine samples were analyzed as a dosing biomarker during glycerol phenylbutyrate (GPB) dosing in 68 healthy adults and 66 adult and pediatric patients with urea cycle disorders who ...
M. Mokhtarani, G.A. Diaz, U. Lichter-Konecki, S.A. Berry, J. Bartley, S.E. McCandless, W. Smith, C. Harding, C. Le Mons, D.F. Coakley, B. Lee, B.F. Scharschmidt   +11 more
doaj   +2 more sources