Posted on December 10, 2014

Ways of promoting innovative collaborations and simulations for focused research leading to new treatments of hyperammonemia (a metabolic disturbance due to excess ammonia in the blood) and related disorders were discussed during the first International Conference on Hyperammonemia and Related Disorders hosted recently by Hamad Medical Corporation (HMC). More than 350 healthcare professionals from around the world attended the two-day conference, which served as a dynamic platform to discuss the latest advances and novel treatments for hyperammonemia and other related metabolic disorders, particularly affecting infants and young children.

In attendance at the conference were distinguished experts from prestigious regional and international institutes such as Instituto de Biomedicina de Valencia in Spain, Bambino Gesù Children’s Hospital in Italy, University Children’s Hospital Zurich in Switzerland, University of Oslo in Norway, New York Medical College in the US, University of Freiburg in Germany, King Faisal Specialist Hospital & Research Center (KFSHRC) in Saudi Arabia, and Mafraq Hospital in UAE.

Dr. Tawfeg Ben-Omran, Head of the Clinical and Metabolic Genetics section at HMC’s Pediatrics Department explained that hyperammonemia requires prompt diagnosis and urgent treatment because it causes elevated levels of ammonia in the blood and brain. “In a situation where a child is affected with hyperammonemia, blood carrying an increased amount of ammonia enters the brain. Ammonia is a highly toxic material and affects the neurological development of the brain. If not treated in time, hyperammonemia can lead to irreversible damage to the developing and mature brain,” Dr. Ben-Omran highlighted. 

HMC hosts first international conference 2 [].jpgHe said the condition can occur in children of any age, but stressed that the majority of cases are found in newborns. Professor Johannes Häeberle from the Division of Metabolism at the University Children’s Hospital Zurich said: “There are several causes that can lead to hyperammonemia, including many different congenital metabolic diseases, as well as other kinds of acquired diseases.” “Hyperammonemia presents an acute emergency situation and can be solved with a very aggressive treatment that includes detoxification (removal of ammonia from the body) as well as specialized medication and diet,” Professor Häeberle added.

During the conference, healthcare professionals had the opportunity to delve into topics on hyperammonemia in infants, long-term management of hyperammonemia, clinical improvements in advanced hyperammonemia, and diagnosis and treatment of other rare metabolic disorders, such as glutamine synthetase (GS) deficiency and urea-cycle disorder (UCD). GS is a condition in which the body lacks a metabolite known as glutamine (also known as an amino acid - small protein molecules needed by the body for different kinds of functions).

Dr. Moeen Al-Sayed, Consultant Pediatrician, Geneticist and Metabolist at KFSHRC said: “Hyperammonemia in the pediatric population is largely related to genetic disorders and any such gathering that highlights genetic diseases is extremely important because genetic diseases are common in the region. They are a major cause of morbidity, mortality and a cause of social and financial burden.” “More importantly, genetic diseases run in the family, so the importance of identifying a genetic disease in one member helps the whole family not just the immediate family, but also the extended family. We have examples where we were able to prevent genetic diseases from happening once we diagnosed the index case,” Dr. Al-Sayed highlighted.

The conference also marked the successful completion of a scientific project focused on finding a cure for GS deficiency. Scientists from HMC, University Children’s Hospital Zurich, and University of Oslo collaborated on the project to identify reasons for GS. The four-year project was supported by Qatar Foundation and involved clinical trials and thorough investigations which led to the publication of many papers and research articles in high-ranking scientific journals.