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orotic acid

William L Nyhan, Jon A Gangoiti
Objective Orotic aciduria and deficiency of uridine monophosphate synthetase have been observed in a patient, studied over 10 years, who had no megaloblastic anemia. Excretion of orotic acid and orotidine were 8.24 and 0.52 mmol/mol of creatinine. The ratio of 15.85 differed appreciably from that of 6 patients reported with no megaloblastic anemia. Methods The analysis of orotidine by gas chromotography mass spectrometry was conducted. Conclusion Patients with orotic aciduria with and without megaloblastic anemia cannot be distinguished by ratio of orotic acid to orotidine...
August 30, 2016: Neuropediatrics
John A Duley, Michael G Henman, Kevin H Carpenter, Michael J Bamshad, George A Marshall, Chee Y Ooi, Bridget Wilcken, Jason R Pinner
BACKGROUND: Miller syndrome (post-axial acrofacial dysostosis) arises from gene mutations for the mitochondrial enzyme dihydroorotate dehydrogenase (DHODH). Nonetheless, despite demonstrated loss of enzyme activity dihydroorotate (DHO) has not been shown to accumulate, but paradoxically urine orotate has been reported to be raised, confusing the metabolic diagnosis. METHODS: We analysed plasma and urine from a 4-year-old male Miller syndrome patient. DHODH mutations were determined by PCR and Sanger sequencing...
September 2016: Molecular Genetics and Metabolism
Ehud Gazit
The formation of ordered amyloid assemblies is associated with major human degenerative disorders, including Alzheimer's disease, Parkinson's disease, and type 2 diabetes. Amyloid fibrils are elongated nanoscale structures that bind to specific dyes (including thioflavin T and Congo red). Amyloid fibrillar assemblies or their early intermediates are known to induce apoptotic cytotoxic effect. Until recently, amyloid fiber formation was observed only with proteins and peptides. We reported in 2012 that a single amino acid, phenylalanine, could also form typical amyloid fibrils with the same morphology, dye-binding specificity, and electron diffraction pattern as protein amyloids...
July 2016: Journal of Inherited Metabolic Disease
Anne-Els van de Logt, Leo A J Kluijtmans, Marleen C D G Huigen, Mirian C H Janssen
A 59-year-old woman, with a medical history of intellectual disability after perinatal asphyxia, was admitted because of coma due to hyperammonemia after she was treated for a fracture of the pelvis. The ammonia level was 280 μM. Acquired disorders as explanation for the hyperammonemia were excluded. Metabolic investigations showed an elevated glutamine and alanine and low citrulline, suspect for a urea cycle defect (UCD). Orotic acid could not be demonstrated in urine. DNA investigations were negative for mutations or deletions in the OTC and CPS1 gene, but revealed a homozygous c...
May 5, 2016: JIMD Reports
Yoshie Oishi, Takashi Kakimoto, Wenji Yuan, Shuichi Kuno, Hiromasa Yamashita, Toshio Chiba
We evaluated the therapeutic efficacy of hepatic transfection of plasmid DNA using micro-bubbles and ultrasound insonation for fetal correction of ornithine transcarbamylase (OTC) deficiency in mice. Twenty-three sparse-fur heterozygous pregnant mice (day 16 of gestation) were divided into three groups: injection of plasmid-DNA micro-bubble mixture into fetal liver with ultrasound insonation (Tr, n = 11); control group 1 (C1), injection of plasmid-DNA micro-bubble mixture into fetal liver with no insonation (n = 5); and control group 2 (C2), injection of saline-micro-bubble mixture into fetal liver with ultrasound insonation (n = 7)...
June 2016: Ultrasound in Medicine & Biology
Kanagarajan Surekha, Damodharan Prabhu, Mariadasse Richard, Mutharasappan Nachiappan, Jayashree Biswal, Jeyaraman Jeyakanthan
Biosynthesis pathways of pyrimidine and purine are shown to play an important role in regular cellular activities. The biosynthesis can occur either through de novo or salvage pathways based on the requirement of the cell. The pyrimidine biosynthesis pathway has been linked to several disorders and various autoimmune diseases. Orotate phosphoribosyl transferase (OPRTase) is an important enzyme which catalyzes the conversion of orotate to orotate monophosphate in the fifth step of pyrimidine biosynthesis. Phylogenetic analysis of 228 OPRTase sequences shows the distribution of proteins across different living forms of life...
June 1, 2016: Gene
Xiuqing Han, Chunhua Liu, Yong Xue, Jingfeng Wang, Changhu Xue, Teruyoshi Yanagita, Xiang Gao, Yuming Wang
We investigated whether fatty liver preceded insulin resistance or vice versa using a long-term orotic acid (OA)-induced nonalcoholic fatty liver disease (NAFLD) model without the confounding effects of obesity and hyperlipidemia and explored the role of the liver in insulin resistance. Male Wistar rats were fed with or without OA supplementation for 30, 60, and 90 days. The NAFLD group showed increased liver lipid at 30, 60, and 90 days; glucose intolerance was noted at 60 and 90 days. Furthermore, partial liver proteins and gene expressions related to upstream signaling of insulin were decreased...
2016: Bioscience, Biotechnology, and Biochemistry
Tamami Haraguchi, Takahiro Uchida, Mai Hazekawa, Miyako Yoshida, Masaki Nakashima, Hotaka Sanda, Takema Hase, Yutaka Tomoda
The purpose of this study was to determine which foods and/or drinks are capable of reducing the bitterness of topiramate when consumed together with the medicine. The inhibitory effects of foods/drinks (yoghurt and nine other foods/drinks) on the bitterness of topiramate (5 mg/mL) were evaluated with a taste sensor using a bitterness-responsive membrane (C00). The effect of topiramate on the taste characteristics of the foods/drinks themselves was also evaluated by taste sensor outputs. The viscosities of the foods/drinks and the influence of the lactic acid and orotic acid components of yoghurt, the most successful of the tested substances in taste masking, on the bitterness of topiramate were also measured...
2016: Chemical & Pharmaceutical Bulletin
Nuno Carvalho, Eduardo Coelho, Luís Gales, Vítor Costa, José António Teixeira, Pedro Moradas-Ferreira
We demonstrated that a Klura3Δ, mutant of the yeast Kluyveromyces lactis is able to produce and secrete into the growth medium considerable amounts of orotic acid. Using yeast extract-peptone-glucose (YPD) based media we optimized production conditions in flask and bioreactor cultures. With cells grown in YPD 5% glucose medium, the best production in flask was obtained with a 1:12.5 ratio for flask: culture volume, 180 rpm, 28°C and 200 mM MOPS for pH stabilization at neutral values (initial culture pH at 8...
June 2016: Journal of Bioscience and Bioengineering
Katsumi Shibata, Nobuya Morita, Tomoyo Kawamura, Ai Tsuji, Tsutomu Fukuwatari
Fatty liver is caused when rats are given orotic acid of the pyrimidine base in large quantities. The lack of B-group vitamins suppresses the biosynthesis of fatty acids. We investigated how orotic acid-induced fatty liver affects the concentrations of liver, blood, and urine B-group vitamins in rats. The vitamin B6 and B12 concentrations of liver, blood, and urine were not affected by orotic acid-induced fatty liver. Vitamin B2 was measured only in the urine, but was unchanged. The liver, blood, and urine concentrations of niacin and its metabolites fell dramatically...
2015: Journal of Nutritional Science and Vitaminology
Arzu Kavaz Yüksel, Ihsan Güngör Şat, Mehmet Yüksel
The aim of this research was to evaluate the effect of terebinth (Pistacia terebinthus L.) coffee addition (0.5, 1 and 2 %) on the chemical and physical properties, colour values, organic acid profiles, mineral contents and sensory characteristics of ice creams. The total solids, fat, titratable acidity, viscosity, first dripping time and complete melting time values, a (*) and b (*) colour properties, citric, lactic, acetic and butyric acid levels and Ca, Cu, Mg, Fe, K, Zn and Na concentrations of ice creams showed an increase with the increment of terebinth coffee amount, while protein, pH, L (*), propionic acid and orotic acid values decreased...
December 2015: Journal of Food Science and Technology
Sarar Mohamed, Muddathir H Hamad, Altaf A Kondkar, Khaled K Abu-Amero
We report a 3-year-old Saudi boy with recurrent episodes of vomiting, poor feeding, and altered mental status accompanied by an intermittent mild hyperammonemia, and a large elevation of urinary orotic acid. Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous deletion at the fourth nucleotide of intron 4 (c.386+4delT) in the proband and his asymptomatic mother. This novel mutation in the OTC gene is responsible for the late-onset phenotype of OTC deficiency.
October 2015: Saudi Medical Journal
Maria Barbara Pisano, Paola Scano, Antonio Murgia, Sofia Cosentino, Pierluigi Caboni
Italian buffalo mozzarella (BM) cheese metabolite profile and microbial communities were characterised and compared to cow mozzarella (CM). Polar metabolite profiles were studied by gas-chromatography mass-spectrometry (GC-MS) and results elaborated by multivariate analysis (MVA). BM produced using natural whey starter cultures (NWS) exhibited a higher microbial diversity with less psychrotrophic bacteria. BM samples were higher in threonine, serine, valine, and lower in orotic acid and urea. CM produced with commercial starters (CMS) had the highest count of Streptococcus thermophilus and higher levels of galactose and phenylalanine...
February 1, 2016: Food Chemistry
Wenjia Tong, Danqun Jin, Jingmin Sun
OBJECTIVE: To discuss the clinical characteristics, diagnosis and treatment management of ornithine transcarbamylase deficiency (OTCD). METHOD: Data of the clinical diagnosis and treatment of a case with OTCD were analyzed, and the domestic and international literature was reviewed. RESULT: (1) The case was a boy, 8 years old; and the initial symptoms were vomiting and reduced consciousness for a day after eating a lot of eggs as previous similar history...
May 2015: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Monika Löffler, Elizabeth A Carrey, Elke Zameitat
It is timely to consider the many facets of the small molecule orotic acid (OA), which is well-known as an essential intermediate of pyrimidine de novo synthesis. In addition, it can be taken up by erythrocytes and hepatocytes for conversion into uridine and for use in the pyrimidine recycling pathway. We discuss the link between dietary orotate and fatty liver in rats, and the potential for the alleviation of neonatal hyperbilirubinaemia. We address the development of orotate derivatives for application as anti-pyrimidine drugs, and of complexes with metal ions and organic cations to assist therapies of metabolic syndromes...
May 20, 2015: Journal of Genetics and Genomics, Yi Chuan Xue Bao
Sheng Yin, Shpend Dragusha, Valon Ejupi, Takayuki Shibata, Tsutomu Kabashima, Masaaki Kai
Orotic acid is an intermediate in the synthesis pathway of uridine-5'-monophosphate, and increases in body fluids of patients suffering from hereditary disorders such as orotic aciduria and hyperammonemia. In this study, we developed a spectrofluorometric method with or without high-performance liquid chromatography for the selective and sensitive quantification of orotic acid in human biological specimens, using 4-trifluoromethylbenzamidoxime (4-TFMBAO) as a fluorogenic reagent. This reagent provided intensive fluorescence for only orotic acid amongst 62 compounds including structurally related bio-substances such as nucleic acid bases, nucleosides, nucleotides, amino acids, vitamins, bilirubin, uric acid, urea, creatine, creatinine and sugars...
July 2015: Journal of Fluorescence
Jin-Ho Choi, Beom Hee Lee, Ja Hye Kim, Gu-Hwan Kim, Yoo-Mi Kim, Jahyang Cho, Chong-Kun Cheon, Jung Min Ko, Jung Hyun Lee, Han-Wook Yoo
Ornithine transcarbamylase (OTC) deficiency is an X-linked inborn error of the urea cycle that leads to the accumulation of ammonia, resulting in neurological deficits. This study was performed to describe the clinical outcomes, biochemical features and molecular spectra of patients with OTC deficiency. A total of 49 patients from 47 unrelated Korean pedigrees were included who were diagnosed with OTC deficiency based on biochemical findings and molecular analyses. Patient clinical features,biochemical findings and molecular data were analyzed retrospectively...
September 2015: Journal of Human Genetics
Cheng-Yang Huang
Dihydropyrimidinase is a member of the cyclic amidohydrolase family, which also includes allantoinase, dihydroorotase, hydantoinase, and imidase. These metalloenzymes possess very similar active sites and may use a similar mechanism for catalysis. However, whether the substrates and inhibitors of other cyclic amidohydrolases can inhibit dihydropyrimidinase remains unclear. This study investigated the inhibition of dihydropyrimidinase by flavonoids and substrates of other cyclic amidohydrolases. Allantoin, dihydroorotate, 5-hydantoin acetic acid, acetohydroxamate, orotic acid, and 3-amino-1,2,4-triazole could slightly inhibit dihydropyrimidinase, and the IC50 values of these compounds were within the millimolar range...
2015: PloS One
Shiva Kumar, Kalyanaraman Krishnamoorthy, Devaraja G Mudeppa, Pradipsinh K Rathod
The most severe form of malaria is caused by the obligate parasite Plasmodium falciparum. Orotate phosphoribosyltransferase (OPRTase) is the fifth enzyme in the de novo pyrimidine-synthesis pathway in the parasite, which lacks salvage pathways. Among all of the malaria de novo pyrimidine-biosynthesis enzymes, the structure of P. falciparum OPRTase (PfOPRTase) was the only one unavailable until now. PfOPRTase that could be crystallized was obtained after some low-complexity sequences were removed. Four catalytic dimers were seen in the asymmetic unit (a total of eight polypeptides)...
May 2015: Acta Crystallographica. Section F, Structural Biology Communications
Adrian Drazic, Erika Kutzner, Jeannette Winter, Wolfgang Eisenreich
Hypochlorite is a reactive oxygen species that is worldwide as an antibacterial disinfectant. Hypochlorite exposure is known to cause oxidative damage to DNA and proteins. As a response to these effects, the metabolite profiles of organisms treated with sub-lethal doses of hypochlorite are assumed to be severely modified; however, the nature of these changes is hardly understood. Therefore, using nuclear magnetic resonance spectroscopy and gas chromatography-coupled mass spectrometry, we analyzed the time-dependent impact of hypochlorite exposure with a sub-lethal concentration (50 µM) on the metabolite profile of the Escherichia coli strain MG1655...
2015: PloS One
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