All issues > Volume 35(1); 1992

Original Article

J Korean Pediatr Soc. 1992;35(1):69-79. Published online January 15, 1992.

A Clinical Study in Phenylketonuria

Hye Kyeong HK Nam¹, Jin Seop JS Shim¹, Dong Hwan DH Lee¹, Sang Jhoo SJ Lee¹, Ki Weon KW Cha², Jeong Bin JB Yim²

¹Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea
²Department of Microbiology, College of Natural Sciences, Seoul National University, Seoul, Korea

Abstract

Thirteen cases of phenylketonuria who were diagnosed at department of pediatrics, Soonchunhyang University Hospital, and four cases at other hospitals and other countries from July, 1984 to April, 1991 were reviewed and analyzed. The results were as follow: 1) All 17 cases were between the age of 3 days and 19 years, and the male to female ratio was 1.43:1. 2) There were 4 cases of phenylketonuria in two families. 3) The common symptoms and physical findings were blond hair and musty-odored urine (17 cases), mental retardation(14 cases), hyperactivity(12 cases), convulsion(7 cases) and eczema(6 cases) in that order. 4) On the laboratory findings, all cases were elevated blood phenylalanine level, positive findings of Guthrie test, FeCl3 and DNPH tests in urine. Out of 17 cases, 14 cases who measured high-performance liquid chromatographic quantitative analysis of pterin in urine were within normal range. 5) Among 13 cases who received EEG, 7 cases showed abnormal patterns. 6) Of 12 cases who examined develpmental quotient, 9 cases were mentally retarded. 7) The earlier detected phenylketonuria, the hiher D.Q. and the better response to low-phenylalanine diet. We hope the

Keywords :Phenylketonuria