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A Clinical Study in Phenylketonuria

Journal of the Korean Pediatric Society 1992;35(1):69-79.
Published online January 15, 1992.
A Clinical Study in Phenylketonuria
Hye Kyeong Nam1, Jin Seop Shim1, Dong Hwan Lee1, Sang Jhoo Lee1, Ki Weon Cha2, Jeong Bin Yim2
1Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea
2Department of Microbiology, College of Natural Sciences, Seoul National University, Seoul, Korea
페닐케톤뇨증의 임상적 고찰
남혜경1, 심진섭1, 이동환1, 이상주1, 차기원2, 임정빈2
1순천향대학교 의과대학 소아과학교실
2서울대학교 자연과학대학 미생물학과
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
Key Words: Phenylketonuria

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