new experience with the diagnosis of inborn metabolic diseases in Bahrain

ABSTRACT

Since the Section of metabolic diseases has been established in the Department of Paediatrics, Salmaniya Medical Complex, Bahrain in October 1997, 176 patients were referred to it suspected of having a metabolic disorder, out of which 23 patients with various errors of metabolism have been identified in 10 months period. These data are found to be of a higher frequency [1/470 annual births] than a neighbouring country sharing common cultural and social background [Saudi Arabia] [1/815 annual births]. It has been suggested that the incidence of organic acid disorders [OAD] in the world is approximately 1/10,000 births, while in the Arabian peninsula the incidence of OAD is estimated to be 12-times higher than the world figure. Undoubtedly, the increased incidence of these diseases in Bahrain might partly be due to the availability of a diagnostic service and partly due to the high level of consanguinity. In the past, many such cases did not survive. Nowadays the inherited metabolic disorders have become a universal problem. Through the help of early recognition of such diseases [including prenatal diagnosis and newborn screening program], advances in the diagnostic, and availability of appropriate therapy and genetic counseling, the management and outcome of these diseases have also improved significantly. Indeed most of these patients are now living a better quality of life which otherwise would have lifelong crippling consequences