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.

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Over a 12-year period (1983 to 1994), 11 cases of classical galactosaemia were identified in the Saudi Aramco Medical Services Organization (SAMSO). This yields an incidence of 12 cases per 100,000 live births in the Easter Province of Saudi Arabia. A higher proportion of infants presented with infections compared to reports in the literature. Screening for galactosaemia is highly recommended in this high-risk population.

For the past several decades, abdominal/pelvic prenatal ultrasonography (P-USG) has been the most significant technology used in obstetrics. There has been a tremendous increase in use throughout the world and there have been many improvements in the technology used. However, there are aspects of the technology such as frequency, exposure time, thermal and cavitation exposure indices, and increased acoustic output of the ultrasonic waves that possibly could be harmful to the embryo/fetus. In particular, prolonged exposure may increase susceptibility to Autism Spectrum Disorder (ASD). Along with the increasing use of P-USG, there has been a similar increase in the incidence of ASD. The diagnosis of ASD has been found to be more common in geographic areas with a more affluent ethnicity, high socioeconomic status, and high parental education. These are also areas where prenatal ultrasonography is readily available and affordable. Given that there are biophysical risks from P-USG, especially in non-medical settings, P-USG may emerge as a possible risk factor for ASD. The past history of radiography provides a historical perspective: the predominant past opinion years ago was that exposure to X-rays during pregnancy caused no significant risk to a fetus. However, the association between X-ray exposure and childhood leukemia was only established 40 years after X-ray use began. This review focuses on the literature which supports the generation of the hypothesis that excessive P-USG usage may be a factor in the etiology of ASD.

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