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This case report details a 30-year-old woman with late-onset OTC deficiency diagnosed with right-sided ductal carcinoma in situ. After segmental mastectomy, she received adjuvant 3D conformal RT (40 Gy in 15 fractions with a concomitant boost to 48 Gy) supported by preoperative hydration, close nutritional monitoring, and serial ammonia measurements. Treatment was completed without interruptions or hyperammonemia, suggesting feasibility with proactive multidisciplinary prevention and metabolic surveillance.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/radiation-therapy-in-a-ductal-carcinoma-in-situ-patient-with-ornithine-transcarbamylase-deficiency-a-case-report/440230/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/radiation-therapy-in-a-ductal-carcinoma-in-situ-patient-with-ornithine-transcarbamylase-deficiency-a-case-report/440230.png","ImageObject",300,407,{"name":92,"@type":93},"Danger Angel","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-01","2026-09-29",true,{"@type":102,"interactionType":103,"userInteractionCount":39},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"Why is OTC deficiency relevant to radiation therapy risk?","Question",{"text":112,"@type":113},"OTC deficiency impairs ammonia detoxification, which increases the risk of hyperammonemic crises during metabolic stress induced by cancer treatment, including radiation therapy.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What radiation regimen was used in this case report?",{"text":117,"@type":113},"The patient received adjuvant 3D conformal radiotherapy of 40 Gy in 15 fractions with a concomitant boost to 48 Gy.",{"name":119,"@type":110,"acceptedAnswer":120},"How did the care team monitor and prevent metabolic complications?",{"text":121,"@type":113},"The multidisciplinary approach included preoperative hydration, close nutritional monitoring, and serial ammonia measurements throughout treatment.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},440230,1791316490,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":39,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":29,"language":139,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":140,"faqs":141,"seo_title":142,"seo_description":67,"update_tm":143,"read_time":144,"preview_page_count":4},962090769052,"https://ap-avatar.wpscdn.com/davatar_9964176cb1d06d4a9deccf72a44ae3dc","Case Report  \npISSN 2234-1900 · eISSN 2234-3156  \nRadiat Oncol J 2025;43(4):214-219 [https://doi.org/10.3857/roj.2025.00423](https://doi.org/10.3857/roj.2025.00423)  \nRadiation therapy in a ductal carcinoma in situ patient with ornithine transcarbamylase deficiency: a case report  \nIris Kang1, Justin Park2,3, Christine Yang2,3, Aster Kim4, Mary Tang5, Kaye Lu6,7, Azadeh Carr6,7, Stephen F. Sener6,7, Rachel McGowan8, Shoji Yano9, Stella K. Yoo2  \n1 Keck School of Medicine of USC, University of Southern California, Los Angeles, CA, USA 2Department of Radiation Oncology, Los Angeles General Medical Center, Los Angeles, CA, USA  \n3Department of Radiation Oncology, Keck School of Medicine of USC, University of Southern California, Los Angeles, CA, USA 4 University of California, Los Angeles, Los Angeles, CA, USA  \n5Pepperdine University, Pepperdine, CA, USA  \n6Department of Surgery, Los Angeles General Medical Center, Los Angeles, CA, USA  \n7Department of Surgery, Keck School of Medicine of USC, University of Southern California, Los Angeles, CA, USA 8 Genetics Division, Department of Pediatrics, Los Angeles General Medical Center, Los Angeles, CA, USA  \n9 Genetics Division, Department of Internal Medicine, Keck School of Medicine of USC, University of Southern California, Los Angeles, CA, USA  \nReceived: July 17, 2025  \nRevised: August 27, 2025  \nAccepted: September 16, 2025  \nCorrespondence:  \nStella K. Yoo  \nDepartment of Radiation Oncology, Los Angeles General Medical Center, 1100 North State Street, Clinic Tower A1B129, Los Angeles, CA 90033, USA Tel: +1-323-409-1382  \n[E-mail: syoo3@dhs.lacounty.gov](E-mail: syoo3@dhs.lacounty.gov)  \nORCID: [https://orcid.org/0000-0001-](https://orcid.org/0000-0001-)[ ](https://orcid.org/0000-0001-)[8614-7254](8614-7254)  \nOrnithine transcarbamylase (OTC) deficiency is a rare urea cycle disorder that impairs ammonia detoxification, increasing the risk of hyperammonemic crises under metabolic stress. While chemotherapy-related risks have been reported, data on the safety of ionizing radiation therapy (RT) in this population are limited. This case describes a 30-year-old woman with late-onset OTC deficiency diagnosed with right-sided ductal carcinoma in situ. She underwent segmental mastectomy followed by adjuvant 3D conformal RT (40 Gy in 15 fractions with a concomitant boost to 48 Gy). Her multidisciplinary care involved preoperative hydration, close nutritional monitoring, and serial ammonia measurements. She completed RT without treatment interruptions or signs of hyperammonemia. This case illustrates that breast RT can be delivered safely in patients with OTC deficiency with a multidisciplinary, preventative approach. To our knowledge, this is the first report describing RT planning and metabolic surveillance in this population.  \nKeywords: Ornithine carbamoyltransferase deficiency disease, Radiotherapy, Breast neoplasms, Hyperammonemia, Urea cycle disorders, Case reports  \nIntroduction  \nOrnithine transcarbamylase (OTC) deficiency is an X-linked genetic disorder of the urea cycle caused by mutations in the OTC gene. The OTC enzyme is responsible for converting ornithine and carbamoyl phosphate into citrulline and phosphate, a crucial step in ammonia detoxification in the liver. The clinical severity of mutations in the OTC gene is determined by the type and position of the mutation, which can result in either complete or partial loss of enzyme function [1].  \nHyperammonemic crises caused by the complete loss of enzyme function in neonatal-onset OTC deficiency can result in neurologic damage, coma, or death without timely treatment [1-3]. With partial loss late-onset OTC deficiency, the clinical presentation is often milder, with common symptoms including vomiting, lethargy, and confusion. Due to the often nonspecific and intermittent nature of such symptoms, diagnosis can be delayed or missed [4].  \nMetabolic disorders such as OTC deficiency can pose increased risk to side effects in canc","cbCaijgGmXWYWZdJ","https://ap.wps.com/l/cbCaijgGmXWYWZdJ","pdf",816181,"English","# Introduction\n# Case Report","[{\"question\":\"Why is OTC deficiency relevant to radiation therapy risk?\",\"answer\":\"OTC deficiency impairs ammonia detoxification, which increases the risk of hyperammonemic crises during metabolic stress induced by cancer treatment, including radiation therapy.\"},{\"question\":\"What radiation regimen was used in this case report?\",\"answer\":\"The patient received adjuvant 3D conformal radiotherapy of 40 Gy in 15 fractions with a concomitant boost to 48 Gy.\"},{\"question\":\"How did the care team monitor and prevent metabolic complications?\",\"answer\":\"The multidisciplinary approach included preoperative hydration, close nutritional monitoring, and serial ammonia measurements throughout treatment.\"}]","Radiation therapy in a ductal carcinoma in situ patient with ornithine transcarbamylase deficiency - a case report | PDF",1790691560,15]