Guidelines for acute management of hyperammonemia in the Middle East region

Abstract

Majid Alfadhel,1,2 Fuad Al Mutairi,1,2 Nawal Makhseed,3 Fatma Al Jasmi,4 Khalid Al-Thihli,5 Emtithal Al-Jishi,6 Moeenaldeen AlSayed,7 Zuhair N Al-Hassnan,7,8 Fathiya Al-Murshedi,5 Johannes Häberle,9 Tawfeg Ben-Omran10 Middle East Hyperammonemia and Urea Cycle Disorders Scientific Group (MHUSG) 1Department of Pediatrics, Division of Genetics, 2King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia; 3Department of Pediatrics, Jahra Hospital, Ministry of Health, Jahra City, Kuwait; 4Department of Pediatric, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates; 5Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman; 6Salmaniya Medical Complex, Arabian Gulf University, Manama, Bahrain; 7Department of Medical Genetics, King Faisal Specialist Hospital & Research Center, 8The National Newborn Screening Program, Ministry of Health, Riyadh, Saudi Arabia; 9Department of Pediatrics, Division of Metabolism and Children’s Research Center, University Children’s Hospital Zurich, Zurich, Switzerland; 10Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar Background: Hyperammonemia is a life-threatening event that can occur at any age. If treated, the early symptoms in all age groups could be reversible. If untreated, hyperammonemia could be toxic and cause irreversible brain damage to the developing brain.Objective: There are major challenges that worsen the outcome of hyperammonemic individuals in the Middle East. These include: lack of awareness among emergency department physicians about proper management of hyperammonemia, strained communication between physicians at primary, secondary, and tertiary hospitals, and shortage of the medications used in the acute management of hyperammonemia. Therefore, the urge to develop regional guidelines is extremely obvious.Method: We searched PubMed and Embase databases to include published materials from 2011 to 2014 that were not covered by the European guidelines, which was published in 2012. We followed the process of a Delphi conference and involved one preliminary meeting and two follow-up meetings with email exchanges between the Middle East Hyperammonemia and Urea Cycle Disorders Scientific Group regarding each draft of the manuscript.Results and discussion: We have developed consensus guidelines based on the highest available level of evidence. The aim of these guidelines is to homogenize and harmonize the treatment protocols used for patients with acute hyperammonemia, and to provide a resource to not only metabolic physicians, but also physicians who may come in contact with individuals with acute hyperammonemia.Conclusion: These suggested guidelines aim to ease the challenges faced by physicians dealing with acute hyperammonemia in the region. In addition, guidelines have demonstrated useful collaboration between experts in the region, and provides information that will hopefully improve the outcomes of patients with acute hyperammonemia. Keywords: hyperammonemia, inborn errors of metabolism, urea cycle, acute management, ammonia, Middle East

Keywords

• Hyperammonemia
• Inborn errors of metabolism
• Urea cycle
• Acute management
• Ammonia
• Middle East.