Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2016-09, Vol.11 (1), p.126-126, Article 126
Main Authors: Alfadhel, Majid, Benmeakel, Mohammed, Hossain, Mohammad Arif, Al Mutairi, Fuad, Al Othaim, Ali, Alfares, Ahmed A, Al Balwi, Mohammed, Alzaben, Abdullah, Eyaid, Wafaa
Format: Article
Language:English
Subjects:
Amino acids
Births
Classification
Congenital diseases
Consent
Defects
Dehydrogenases
Disease
Female
Funding
Humans
Incidence
Lysosomal Storage Diseases - epidemiology
Lysosomal Storage Diseases - genetics
Male
Medical research
Metabolism
Metabolism, Inborn Errors - epidemiology
Metabolism, Inborn Errors - genetics
Metabolism, Inborn errors of
Metabolites
Mutation
Mutation - genetics
Physiological aspects
Rare diseases
Research centers
Retrospective Studies
Saudi Arabia - epidemiology
Sphingolipidoses - epidemiology
Sphingolipidoses - genetics
Studies
Urine
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Summary:Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. The aim of this study was to determine the type and distribution of IEMs in patients presenting to a tertiary care center in Saudi Arabia. We conducted a retrospective review of children diagnosed with IEMs presenting to the Pediatric Department of King Abdulaziz Medical City in Riyadh, Saudi Arabia over a 13-year period. Over the 13- year period of this retrospective cohort, the total number of live births reached 110,601. A total of 187 patients were diagnosed with IEMs, representing a incidence of 169 in 100,000 births (1:591). Of these, 121 patients (64.7 %) were identified to have small molecule diseases and 66 (35.3 %) to have large molecule diseases. Organic acidemias were the most common small molecule IEMs, while lysosomal storage disorders (LSD) were the most common large molecule diseases. Sphingolipidosis were the most common LSD. Our study confirms the previous results of the high rate of IEMs in Saudi Arabia and urges the health care strategists in the country to devise a long-term strategic plan, including an IEM national registry and a high school carrier screening program, for the prevention of such disorders. In addition, we identified 43 novel mutations that were not described previously, which will help in the molecular diagnosis of these disorders.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-016-0510-3