Abstract
BackgroundInborn 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. METHOD: 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.ResultsOver 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.ConclusionOur 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.
Highlights
Inborn errors of metabolism (IEMs) are individually rare; they are collectively common
Inborn errors of metabolism (IEMs) are defined as monogenic diseases that result in dysfunctional proteins encoded by different genes, which in many cases lead to loss of activity of the enzymes involved [1]
The diagnosis of IEMs is mainly based on biochemical investigations, which include the screening of several metabolites in the blood, urine and cerebrospinal fluid (CSF); analysis of enzymatic activities, and molecular genetics testing
Summary
Inborn errors of metabolism (IEMs) are individually rare; they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. More than 600 different inborn errors of metabolism have been recognized up to this point, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. IEMs. Alfadhel et al Orphanet Journal of Rare Diseases (2016) 11:126 molecule IEMs have an acute intoxication presentation with a remitting-relapsing clinical course. Alfadhel et al Orphanet Journal of Rare Diseases (2016) 11:126 molecule IEMs have an acute intoxication presentation with a remitting-relapsing clinical course These include organic acidemias, vitamin responsive disorders, urea cycle disorders, inborn errors of carbohydrates, haem synthesis defects, cholesterol biosynthesis defects, and amino acids and metal transport defects. The diagnosis of IEMs is mainly based on biochemical investigations, which include the screening of several metabolites in the blood, urine and cerebrospinal fluid (CSF); analysis of enzymatic activities, and molecular genetics testing
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