All issues > Volume 33(8); 1990

Original Article

J Korean Pediatr Soc. 1990;33(8):1031-1036. Published online August 31, 1990.

Seventeen Years Experience on Inborn Errors of Metabolism A Study for Future Development of Inborn Errors of Metabolism in Korea.

Hong Jin Lee¹, Hyung Ro Moon¹

¹Department of Pediatrics, College of Medicine, Hallym University
²Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea

Received: April 20, 1989;  Accepted: September 12, 1989.

Abstract

In Korea, the study of inborn errors of metabolism is very primitive. Even the incidence and prevalence of the disease of inborn errors of metabolism are not known in Korea. We have done this study of inborn errors of metabolism in Korea and concluded that: 1) The varieties and incidences of inborn errors of metabolism in Korea might be relatively diverse and high. 2) Nation wide mandatory neonatal screening test should be established and the screening for Wilson disease and adrenogenital syndrome should be included in that project in view of the relatively high inci- dences of these diseases in Korea. 3) To improve the diagnosis the cooperation among university services through and assistance for tech- nical and sharing of facilities.

Keywords :Inborn Errors of Metabolism, Neonatal Screening Test, Korea