All issues > Volume 34(7); 1991

Original Article

J Korean Pediatr Soc. 1991;34(7):949-958. Published online July 31, 1991.

A study for mass screening of galactosemia using galactitol level by spot urine method among Korean infants.

Jin Tae Kim¹, Chong Won Bae¹, Sa Jun Chung¹, Chang Il Ahn¹, Suyama I ², Isshiki G ²

¹Department of Pediatrics, College of Medicine, Kyung Hee University, Seoul, Korea
²Department of Pediatrics, Osaka City University, School of Medicine, Japan

Received: February 28, 1991;  Accepted: April 17, 1991.

Abstract

For mass screening of the galactosemia, we used spot urine method using filter paper which was newly developed by Department of Pediatrics, Kyung Hee University Hospital and Department of Pediatrics, Osaka City University in Japan. We used control groups as followed, 7 of normal adults,- one patient of I, II, III types of galactosemia, respectively. The experimental groups were 62 infants of 0 to 7 days of life, 4 infants of 7 to 30 days of life, 90 infants of 1 month to 1 year of life and 12 infants of 1 year to 2 year of life. The all of the experimental groups were normal infants. We measured urine galactitol /zmol/ml urine and "mol/"mol creatinine by using high performance liquid chromatography (HPLC). The results were followed. 1) The correlation coefficiencies of galactitol and sorbitol between concentration and the differen- cies were 5.98% and 8.60%, respectively, by using the HPLC quantitatively. 2) The maximum urinary galactitol of the normal adult was 0.0590 //mol/ml urine and 0.098 //mol/ #mol creatinine. 3) The maximal levels of urinary galactitol of the experimental groups were 0.3890 for 0 to 7 days group, 0.0640 for 8 days to 1 month group, 0.3650 for 1 month to 1 year group and 0.1430 for 1 year to 2 year group, respectively. 4) The maximal levels of galactitol "mol//^mol creatinine of the experimental groups were 0.0957 for 0 to 7 days group, 0.0174 for 8 days to 1 month group, 0.0937 for 1 month to 1 year group, 0.2844 for 1 year to 2 year group, respectively. But, two cases which showed elevated blood creatinine levels of galactitol ^mol/^mol creatinine over 0.1000. Both of them revealed elevated creatinine. 5) At the galactosemia patients, the minimal levels of galactitol /zmol/ml urine were 0.4350, 0.4670, 0.010 for the types of I，II，IIL respectively. The galactitol pmol//zmol creatinine of the patients were 0.1250, 0.1230 and 0.000, according to those types of patients, respectively. 6) There is no significant differences of the galactitol pmol/ml urine between normal adults and 8 〜 30 days of new bom infants. There was significant differences between the other experimental group(p<0.05), especially I and II types of the patients showed highly significant differences(p<0. 05). 7) At the study of galactitol /zmol/z/mol creatinine, there were significant differences between group 0 to 7 days of age and normal adults(p<0.05), except group of 13 months to 24 months of age. In this experimental study, we demonstrated that the galactitol levels in the spot urine of normal infant were below 0.400^mol/ml urine and below 0.0100^mol//zmol creatinine. And also, we suggested that we could consider as galactosemia in the case of high levels of both jtzmol/ml urine and /rniol/pmol creatinine.

Keywords :Galactitol;spot urine method;Korean infants