Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008

Abstract

BACKGROUND AND OBJECTIVES:Individual inborn errors of metabolism (IEM) are rare disorders, but may not be that uncommon in our patient population. We report the incidence of IEM in a defined cohort of births at the Saudi Aramco medical facilities in the Eastern Province of Saudi Arabia over 25 years.METHODS:The records of all patients diagnosed with IEM from 1 January 1983 to 31 December 2008 were reviewed and categorized according to accumulated or deficient metabolites into small-molecule disorders (aminoacidemia, organic acidopathies [OA], urea cycle defects, fatty acid oxidation, and carbohydrate metabolic disorders) and other disorders, including glycogen and lysosomal storage disorders (LSDs), and organelle disorders.RESULTS:During the study period, 165 530 Saudi Arabian infants were born at Saudi Aramco and 248 were diagnosed with an IEM, corresponding to a cumulative incidence of 150 cases per 100 000 live births. Small-molecule disorders were diagnosed in 134/248 patients (54%). OA were the most common (48/248 patients; 19%), and methylmalonic aciduria was the most frequently observed OA (13/48 patients; 27%). LSDs were diagnosed in 74/248 patients (30%), and mucopolysaccharidosis was the most frequently observed LSD (28/74; 38%).CONCLUSION:We believe that our data underestimate the true incidence of IEM in the region. Regional and national newborn screening programs will provide a better estimation of the incidence of IEM. We recommend a centralized newborn screening program that employs tandem mass spectrometry.

The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review

“…In some of the prevalence/incidence studies, prevalence was self-calculated in 9 articles and corrected in 11 articles. Prevalence/incidence studies were further categorized to the type of study whether it was a national NBS program ( n = 5 articles) [6, 15–18], regional/governorate NBS program ( n = 6 articles) [19–24], selective screening for newborns ( n = 6 articles) [25–30], selective screening of sick/symptomatic newborns and/or infants, children, and adults ( n = 9 articles) [31–39], selective screening for both newborns and sick/symptomatic newborns and/or infants, children, and adults ( n = 4 articles) [40–43], or selective screening for sick/symptomatic children and adults from institutions for mentally challenged ( n = 3 articles) [44–46]. In addition, a study conducted in Turkey addressed PKU prevalence among newborns, sick/symptomatic subjects, and mentally challenged individuals.…”

High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba

“…In selected populations, higher prevalence values have been reported, such as in Aramco Province, Saudi Arabia (44 per 100,000) (Moammar et al, 2010).…”

Frequency of Inborn Errors of Metabolism in a Northeastern Iranian Sample with High Consanguinity Rates

“…For example, an autosomal recessive mutation within a consanguineous family has a higher probability of being passed down to the next generation and being inherited in a homozygous state in the offspring of later generations [5]. Therefore, children born to consanguineous parents are at increased risk of developing metabolic disorders and early mortality [6,7].…”