Results 11 to 20 of about 2,610,885 (275)

Orthotopic liver transplantation for urea cycle enzyme deficiency [PDF]

Hepatology, 1992
Hyperammonemia, abnormalities in plasma amino acids and abnormalities of standard liver functions were corrected by orthotopic liver transplantation in a 14-day-old boy with carbamyl phosphate synthetase-I deficiency and in a 35-yr-old man with argininosuccinic acid synthetase deficiency.
Todo, S, Starzl, TE, Tzakis, A, Benkov, KJ, Kalousek, F, Saheki, T, Tanikawa, K, Fenton, WA   +7 more
openaire   +4 more sources

A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency [PDF]

Archivos Argentinos de Pediatria, 2020
Urea cycle disorders (UCD), are genetically inherited diseases that may have a poor outcome due to to profound hyperammonemia. We report the case of a baby girl diagnosed as N-acetylglutamate synthase (NAGS) deficiency. The patient was evaluated due to diminished sucking and hypotonicity. Physical examination showed hepatomegaly.
Olgac, Asburce, Kasapkara, Çiğdem S, Kilic, Mustafa, Emine Derinkuyu, Betul, Azapagasi, Ebru, Kesici, Selman, Biberoğlu, Gürsel, Ozyazici, Ahmet, Karaca, Meryem, Häberle, Johannes   +9 more
core   +6 more sources

Creatine metabolism in patients with urea cycle disorders

Molecular Genetics and Metabolism Reports, 2021
The urea cycle generates arginine that is one of the major precursors for creatine biosynthesis. Here we evaluate levels of creatine and guanidinoacetate (the precursor in the synthesis of creatine) in plasma samples (ns = 207) of patients (np = 73) with
Filippo Ingoglia, Jean-Leon Chong, Marzia Pasquali, Nicola Longo   +3 more
doaj   +3 more sources

Acquired urea cycle amino acid deficiency and hyperammonaemic encephalopathy in a cat with inflammatory bowel disease and chronic kidney disease

Journal of Feline Medicine and Surgery Open Reports, 2018
Case summary A 5-year-old male neutered Persian cat was referred for investigation of a 4 week history of weight loss, inappetence and intermittent vomiting.
Cécile Dor, Jessica L Adamany, Caroline Kisielewicz, Simone de Brot, Kerstin Erles, Marc P Dhumeaux   +5 more
doaj   +2 more sources

Management of metabolic crisis in three-dayold newborn [PDF]

Liječnički vjesnik, 2023
Urea cycle disorders are a group of metabolic disorders, caused by deficiency of one of the enzymes in the urea cycle, presenting with hyperammonemia triggered by catabolism or protein overload.
Tea Kržak, Lorena Loje Loje, Ivo Barić, Dorotea Ninković   +3 more
doaj   +2 more sources

Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders [PDF]

EMBO Molecular Medicine, 2020
Urea cycle disorders (UCD) are inherited defects in clearance of waste nitrogen with high morbidity and mortality. Novel and more effective therapies for UCD are needed.
Leandro R Soria, Sonam Gurung, Giulia De Sabbata, Dany P Perocheau, Angela De Angelis, Gemma Bruno, Elena Polishchuk, Debora Paris, Paola Cuomo, Andrea Motta, Michael Orford, Youssef Khalil, Simon Eaton, Philippa B Mills, Simon N Waddington, Carmine Settembre, Andrés F Muro, Julien Baruteau, Nicola Brunetti‐Pierri   +18 more
doaj   +5 more sources

N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment

The Application of Clinical Genetics, 2011
Nicholas Ah Mew, Ljubica CaldovicCenter for Genetic Medicine Research, Children’s Research Institute, Children’s National Medical Center, Washington DC, USAAbstract: The conversion of ammonia into urea by the human liver requires the ...
Caldovic L, Ah Mew N
doaj   +1 more source

Modelling urea cycle disorders using iPSCs [PDF]

npj Regenerative Medicine, 2022
The urea cycle is a liver-based pathway enabling disposal of nitrogen waste. Urea cycle disorders (UCDs) are inherited metabolic diseases caused by deficiency of enzymes or transporters involved in the urea cycle and have a prevalence of 1:35,000 live ...
Claire Duff, Julien Baruteau
doaj   +3 more sources

Protein arginine methyltransferase 5 orchestrates the homeostasis and reconstitution of intestinal stem cell niche via balancing urea cycling [PDF]

Cell Communication and Signaling
Background Protein arginine methyltransferase 5 (PRMT5) is highly expressed in many cancers and is a potential therapeutic target. It is also expressed in the small intestine, suggesting a role in intestinal health.
Nan Wang, Xi Wang, Qihang Lian, Yikun Luo, Hefei Tian, Banghui Liu, Yujun Huang, Zhenni Xu, Xudan Lei, Lingxiao Huang, Dengqun Liu   +10 more
doaj   +2 more sources

Carbonic anhydrase-VA deficiency: A close mimicker of urea cycle disorders

Annals of Indian Academy of Neurology, 2021
Bhanudeep Singanamalla, Arushi Gahlot Saini, Savita Verma Attri, Renu Suthar, Kanya Mukhopadhyay   +4 more
doaj   +4 more sources