Current Pediatric Research

We investigated the incidence of seventeen inherited metabolic and endocrine disorders in the Eastern and Jawf Provinces of Saudi Arabia as part of the Saudi National Newborn Screening Program. A retrospective study was conducted between 1st January 2013 and 31st July 2017; all newborns from 20 MOH hospitals in Eastern and (North-western) Jawf Provinces were screened during the study period. Heel prick dry blood spot samples were obtained from all newborns for biochemical and immunoassay testing. Results were compared with other regional, national, and international studies. The total number of newborn babies screened was 199143, of which 264 were positive. This represents an incidence of 1:754.3 live births. The most frequently detected were very long chain acyl-CoA dehydrogenase deficiency (62 cases out of 199143, incidence 1:3211) followed by congenital hypothyroidism (59 out of 199143, incidence 1:3375) and congenital adrenal hyperplasia (25 out of 199143, incidence 1:7965), phenylketonuria (18 out of 199143, incidence 1:11063), and the least common was beta-ketothiolase deficiency (0 out of 199143, incidence 0). Conclusion: The incidence of these seventeen inherited metabolic and endocrine disorders in Eastern and Jawf Provinces is amongst the very highest in the world, attributable to high rates of consanguineous marriage. The incidence of VLCAD is especially high and largely restricted to the Alsherarat tribe in Jawf Province. Of all the towns in Eastern and Jawf Provinces Al-Ahsa has the highest incidence of these inherited disorders. Comparison with other national studies uncovered geographical differences in the incidence of certain inherited metabolic disorders.

Author(s): Randa Alratrout, Zekreat Alsadah, Naseem Ansari

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