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Galactosemia Detected by Neonatal Screening Test

Journal of the Korean Pediatric Society 2003;46(5):440-446.
Published online May 15, 2003.
Galactosemia Detected by Neonatal Screening Test
Il Sung Park1, Hye Jung Cho1, Dong Hwan Lee1, Jung Hwan Song2
1Department of Pediatrics, Soonchunhyang University, College of Medicine, Korea
2Department of Clinical Pathology, Seoul National University, College of Medicine, Seoul, Korea
신생아 선별검사에 의해 발견된 갈락토스혈증에 대한 고찰
박일성1, 조혜정1, 이동환1, 송정환2
1순천향대학교 의과대학 소아과학교실
2서울대학교 의과대학 임상병리학교실
Correspondence: 
Dong Hwan Lee, Email: ldh@hosp.sch.ac.kr
Abstract
Purpose
: The genetic disturbance of galactosemia is expressed as a cellular deficiency of either galactose-1-phosphate uridyltransferase(GALT) or galactokinase(GALK) or UDP galactose 4-epimerase(GALE). To find-out the pattern of galactosemia in Korea, we retrospectively analyzed cases of galactosemia detected by neonatal screening program.
Methods
: We analyzed medical records of patients who visited Soonchunhyang University Hospital at age of 1 month after showing abnormalities in neonatal screening of galactosemia. For accurate diagnosis, galactose was measured by enzyme immunoassay(EIA) and fluorophotometer, also galactose-1-phosphate by fluorophotometer. Enzyme activities of GALK, GALT and GALE in RBC and galactose-1-phosphate were measured by radioisotope assay(RIA). Beutler test were done. Patients went on a lactose-free diet and follow-up tests for galactose, galactose-1-phosphate level and enzyme activity were performed.
Results
: 10 patients(male : 6, female : 4) were diagnosed as galactosemia. Two patients had GALK deficiency and two had GALT deficiency. Six were GALE deficient showing the largest number. In two patients with GALK deficiency, GALT and GALE activities were normal but GALK activities showed respectively reduced activity. For GALT deficiency, two patients had low GALT activity in RBC and showed genotype of Duarte 2/G(galactosemia) in DNA analysis. In one patient, GALT activity was normal. Three patients seemed to be heterozygote state of GALE deficiency according to GALE activity levels. Four patients showed GALK hyperactivity.
Conclusion
: GALE deficiency provided the highest number. After lactose-free diet, galactose and galactose-1-phosphate were normaly maintained. Neonatal screening on galactosemia is essential for preventing life-threatening symptoms and an accurate diagnosis is needed for finding out the type of galactosemia which is important for prognosis.
Key Words: Galactosemia, GALT, GALE, Galactokinase


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