IBEM in Thailand.

The incidence of IBEM in Thailand is yet unknown, however, by estimation it is generally accepted to be 1 in 5,000. From a recent survey in 7 medical schools from different parts of the country and a largest pediatric hospital in Bangkok, we found numerous cases of IBEM nationwide. These are amino acids disorders, carbohydrate disorders, urea cycle defects, peroxisomal, lysosomal storage disorders and many others. Since Thais are quite homogeneous in their genetic make-up; it is, therefore, very likely that IBEM is much more prevalent than we realized. With the exception of thalassemias, IBEM is very common in Thailand and other countries in the Asia-Pacific region. It is a real burden, indeed, since the consequences of IBEM are very serious, eg permanent damage to the CNS causing mental retardation, epilepsy, blindness, deafness and shortened life-span of individuals. Newborn screening for IBEM has been initiated at Siriraj and Ramathibodi Hospital Medical Schools of Mahidol University in 1993. There is yet no national screening program, although a pilot program was launched in the North, Northeast and the South by the Ministry of Health in 1991. Main problems we are facing include: only a handful of clinicians and scientists with expertise in IBEM; no well-equipped laboratory facilities; lack of funding and well-organized plan.