Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency |
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| Institution: | 1. Yanagawa Institute for Developmental Disabilities, Japan;2. Department of Pediatrics and Child Health, Kurume University School of Medicine, Japan;1. Universidade Federal de Santa Catarina, Departamento de Automação e Sistemas, 88040-900 Florianópolis, SC, Brazil;2. Dpto. de Informática, Universidad de Almería - CIESOL, Campus de Excelencia Internacional Agroalimentario, ceiA3. Crta. Sacramento s/n, 04120 La Cañada, Spain;1. Ceremade, Université Paris-Dauphine, Place du Maréchal de Lattre de Tassigny, 75775 Paris cedex 16, France;2. Department of Mathematics, University of Chicago, Chicago, IL 60637, USA;1. School of Science, Hubei University for Nationalities, Enshi, Hubei 445000, PR China;2. College of Computer Science, Civil Aviation Flight University of China, Guanghan, Sichuan 618307, PR China;1. Alfréd Rényi Institute of Mathematics, Hungarian Academy of Sciences, Hungary;2. Eötvös University of Budapest, Hungary;1. Department of Mathematics, College of Science, Nanjing University of Aeronautics and Astronautics, Nanjing 211100, China;2. College of Mathematics and Systems Science, Shandong University of Science and Technology, Qingdao 266590, China |
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| Abstract: | An adult female patient was diagnosed with arginase 1 deficiency (ARG1-D) at 4 years of age, and had been managed with protein restriction combined with sodium benzoate therapy. Though the treatment was successful in ameliorating hyperammonemia, hyperargininemia persisted. After being under control with a strict restriction of dietary protein, severe fall of serum albumin levels appeared and her condition became strikingly worsened. However, after sodium phenylbutyrate (NaPB) therapy was initiated, the clinical condition and metabolic stability was greatly improved.Current management of ARG1-D is aimed at lowering plasma arginine levels. The nitrogen scavengers, such as NaPB can excrete the waste nitrogen not through the urea cycle but via the alternative pathway. The removal of nitrogen via alternative pathway lowers the flux of arginine in the urea cycle. Thereby, the clinical complications due to insufficient amount of protein intake can be prevented. Thus, NaPB therapy can be expected as a useful therapeutic option, particularly in patients with ARG1-D. |
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| Keywords: | Hyperargininemia Alternative pathway Sodium phenylbutyrate |
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