• Journal of Genetic Medicine
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• v.5 no.2
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• pp.131-135
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• 2008

Classical galactosemia is an autosomal recessive disorder of galactose metabolism, caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). Buildup of galactose-1-phosphate is toxic at high levels and can damage the liver, brain, eyes, and other vital organs. The case presented here was that of an 11-day-old female infant who had elevated galatose levels upon initial neonatal screening test with persistent cholestatic jaundice, coagulopathy, and hepatomegaly. The patient was transferred due to aggravation of clinical symptoms including bleeding and jaundice. She had a delayed galactose free diet because of an inappropriate diagnosis. We quickly provided her with a lactose/galactose-restricted diet as per her final diagnosis. Clinical and laboratory results were improved after a few days of treatment. For confirmatory testing for classical galactosaemia, we simultaneously analyzed for GALT enzyme activity and allele-specific PCR/fragments for seven mutations and two polymorphisms in the GALT gene. We were able to find several GALT-deficient and compound heterozygous mutations of the GALT gene.

• Clinical and Experimental Pediatrics
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• v.46 no.5
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• pp.440-446
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• 2003

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.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.135-140
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• 2016

Purpose: Galactose is metabolized to galactose-1-phosphate by galactokinase (GALK), galactose-1-phosphate uridyltransferase (GALT) and UDP-galactose-4-epimerase (GALE), and galactosemia occurs when each enzyme is deficient. In Korea, unlike foreign countries, classic galactosemia is rare and transient galactosemia due to GALK hyperactivity is reported, but studies on frequency, clinical significance, and genetic variation are lacking. In this study, we analyzed the clinical characteristics of patients with galactosemia due to GALK hyperactivity. Methods: We investigated 85 patients who had an elevated galactose level in the neonatal screening test without deficiency of enzymes at Department of Pediatrics, Seoul & Bucheon Soonchunhyang University Hospital from January 2008 to June 2016. We investigated the level of galactose, galactose-1-phosphate, GALK and duration of galactose normalization, and analyzed the correlation between GALK elevation and galactose, galactose-1-phosphate and duration of galactose normalization. And the levels of galactose, galactose-1-phosphate, and duration of galactose normalization were compared between the galactose-free formula feeding group and non-feeding group. Results: Mean age of visit was $26.7{\pm}16.1days$. Duration of galactose normalization was $35.3{\pm}20.5days$. Mean galactose level was $18.5{\pm}7.3mg/dL$ in the neonatal screening and follow-up galactose level in serum was $2.3{\pm}5.4mg/dL$. The mean value of galactose-1-phosphate was $6.0{\pm}4.7mg/dL$ and the mean GALK level was $3.84{\pm}1.28{\mu}mol/Hr/gHb$. There was no significant correlation between GALK levels and galactose levels in the neonatal screening test (P=0.351), and we analyzed the correlation between GALK levels and follow-up galactose levels in serum, there was no significant correlation (P=0.101). There was a significant correlation between GALK levels and galactose-1-phosphate (P=0.015), and the correlation between GALK levels and duration of galactose normalization was not statistically significant (P=0.176). 49% of the patients were fed galactose-free formula, and 45% were not. Galactose and galactose-1-phosphate levels in the neonatal screening test were statistically significantly higher (P=0.004, 0.034) in using galactose-free formula group. Duration of galactose normalization was not related to the use of galactose-free formula (P=0.266, 0.249). Conclusion: Galactosemia due to GALK hyperactivity seems to be a temporary phenomenon and may not require galactose restriction. More research is needed on the role of the nuclear protein, racial traits and genetic variations in Korean patients.