Health Care : Current Reviews

13 years retrospective review of spectrum of inborn errors of metabolism presenting in a tertiary center with identification of 37 novel mutations

4^th Global Summit on Healthcare

November 09-10, 2015 Dubai, UAE

Majid Alfadhel1,2, Abdulrahman Aldayel1, Mohammed Benmeakel1, Mohammed Al Balwi1,2, Abdullah alzaben1,2 and Wafaa Eyaid1,2

1King Abdul-Aziz Medical City, Saudi Arabia
2Ministry of National Guard-Health Affairs, Saudi Arabia

Posters-Accepted Abstracts: Health Care: Current Reviews

Abstract:

Background: Inborn errors of metabolism (IEM) are individually rare; however, it is collectively common. Over 600 human diseases due to inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. Aim of the study: To identify the type and distribution of IEM in patients presenting to a tertiary care center in Saudi Arabia. Method: We conducted a retrospective review of children diagnosed with IEM presenting to the Pediatric Department of King Abdul-Aziz Medical City in Riyadh, Saudi Arabia over a 13-year interval. Results: Over 13-year period of this retrospective cohort, the total numbers of live births reached 110601 births. 187 patients were diagnosed with IEM representing prevalence of 169 in 100000 births (1:591). 121 patients (64.7%) identified with small molecule diseases and 66 (35.3%) with large molecule diseases. Organic acidemias were the most common small molecules IEM while lysosomal storage disorders (LSD) were the most common large molecule diseases. Shingolipidosis were the most common LSD. Conclusion: Our study confirm the previous studies of high rate of IEM in Saudi Arabia and urge the health care strategist in the country to come with a long term strategic plan for the prevention of such disorders including IEM national registry and high school carrier screening program.

Biography :

Email: aldayel.a@gmail.com