Symposium on treatable metabolic diseases

The Saudi Society for Genetic Medicine held a symposium on “Treatable Metabolic Diseases”, which took place remotely under the supervision of the Saudi Commission for Health Specialties and in the presence of 1169 specialists and those interested in raising the level of genetic health awareness in the community and contributing to the movement of scientific and professional progress in the field of genetic medicine. The symposium, which was moderated by Dr. Rana Felimban, Consultant Pediatrician and Genetic Medicine at King Abdulaziz Hospital in Jeddah, and witnessed three sessions, came out with many recommendations that keep pace with the efforts made and stand on the increase and development of genetic diseases in the Kingdom, in light of the efforts and support of the government of the Custodian of the Two Holy Mosques – may God protect him – For the genetics sector and reduce its diseases.

The first session, in which the official spokesman of the Society, Professor Zuhair Rahbeni, Consultant Pediatrician and Genetic Medicine, reviewed the metabolic diseases in the Kingdom, which currently exceed 600 diseases, and some of the existing statistics in the Kingdom on these diseases. The session reviewed the different methods of treatment, such as different diets and medicines, whether substances that stimulate enzymes. Or alternative enzymes for some diseases or bone marrow and liver transplants, and gene therapy, which is the final solution to treat these diseases. While the session recommended accelerating the development of the national registry for genetic diseases, which would unify accurate statistics, and then build clear national strategies to reach the accuracy of the criteria used in genetic disease examinations. Knowing the most common diseases in Saudi society and increasing their list according to the new data, such as blue water that causes blindness, which is one of the common genes, metabolic diseases, and mental disabilities.

The second session, in which Professor Sarar Muhammad, Consultant Pediatrician and Metabolic Diseases at the Military Hospital in Riyadh, reviewed the treatment and developments of the second type of mucopolysaccharidosis, or the so-called Hunter syndrome, which had no treatment, until its new treatments were found, which varied between bone marrow transplantation. Urethral enzyme given intravenously for life. The session reviewed the latest developments in research on this disease, including gene therapy. The session indicated that metabolic diseases and their spread in this striking way are closely related to inbreeding, as the majority of these diseases are caused by a specific chemical imbalance that causes a deficiency of one of the important enzymes that help the body complete its functions, stressing the importance of paying attention to the results of the medical examination before marriage in Reducing the infection of a family member with any genetic or infectious diseases and the reflection of that condition on the patient, family and society, and reaching a healthy and healthy generation. The session stressed the need for early detection of newborns so that metabolic diseases can be diagnosed and early treatment started in order to avoid complications.

In the context of the symposium, Dr. Dia Arafa, Consultant Pediatrician and Genetic Diseases at the Maternity and Children Hospital in Makkah and the General Supervisor of the Early Screening Program for Newborns in Makkah Al-Mukarramah Region, spoke in the third session about Tyrosinemia Type I, a protein disease, and revealed that according to recommendations and global and scientific studies, The discovery of tyrosinemia and the start of treatment in the first month of birth prevents, God willing, from developing liver cancer and prolongs the patient’s life to live a normal life in more than ninety percent of the diseased cases, indicating that the treatment of tyrosinemia consists of a drug (Orthedin), which is given through mouth for life, in addition to a low-protein diet, explaining that liver transplants for tyrosinemia patients have become limited to cases that do not respond to medical drugs due to the late detection of the disease or when signs of liver cancer appear in the patient, and he stressed the importance of adhering to the treatment plan and reviewing clinics Metabolic diseases regularly. While the session recommended an urgent start to include tyrosinemia in the list of diseases examined and included in the national program for early screening of newborns.


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