Aida I Al-Aqeel MD DCH FRCP (Lond), FRCP (Edin), FACMG

Department of Paediatrics, Riyadh Armed Forces Hospital and Department of Genetics, King Faisal Specialist Hospital &

Dr Aida Al Aqeel MD, DCH, FRCPLond FRCPEdin FACMG
Consultant Paediatric Metabolist,
Geneticist and Endocrinologist
Department of Paediatrics
Riyadh Armed Forces Hospital
P O Box 7897
Riyadh 11159
Saudi Arabia
Tel: +966-1-4777714 Ext 5452
Fax: +966-1-4777714 Ext 4603

Genetics metabolic disorders; Inborn errors of metabolism; Saudi Arabia


Middle Eastern cultures are tribal and heavily consanguineous. Marriage between cousins has been part of the culture for millennia leading to "founder" effect and a large number of autosomal recessive diseases.

In Saudi Arabia like other Middle East countries first cousin marriages account for 60 -70% of all marriages, leading to uniquely common disorders which are either rare by Western standards or are unknown. The practicing physician must include these unusual disorders in his diagnostic considerations, since cybernetic trees described for European countries or USA may not be valid for the Middle East.

A review of the combined files of the Armed Forces Hospital and the King Faisal Specialist Hospital and Research Centre, Riyadh, over 10 years period, documented more than 150 varieties of neurodegenerative disease among 2,000 children; 27 of which constitute more than half of these files (Table 1). Some autosomal recessive disorders are common eg. sickle cell anaemia and thalassaemia. Others are unique eg. Sanjad Sakati syndrome and Al-Aqeel-Sewairi syndrome. In these disorders the exact molecular defect is found. Therefore, prevention is possible by either pre-implantation genetics diagnosis or prenatal diagnosis according to the recommendation of our Islamic leaders.