• Journal of the Korean Society of Food Culture
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• v.37 no.4
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• pp.363-375
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• 2022

Galactosemia is a rare, hereditary metabolic disorder caused by the accumulation of galactose and its metabolites in the body due to a lack of enzymes that convert galactose to glucose. This study aimed to investigate the dietary behaviors and nutritional statuses of patients with galactosemia and to provide basic information on the development of nutrition education programs to improve quality of dietary life. A survey was conducted on 13 parents of (<11 years of age) children with galactosemia and 26 parents of (<11 years of age) children without galactosemia. Mean body mass index was greater for school-age children with galactosemia (18.77 kg/m²) than for corresponding normal children (16.55 kg/m²). Underweight and obesity rates of children with galactosemia were greater than those of children without galactosemia. In addition, children with galactosemia had a higher food neophobia rate and thus consumed less food. Normal children exhibited a greater range of food preferences than those with galactosemia, especially for milk and dairy products (p= .001) and fats and sweets (p= .04). Reliable food databases and appropriate dietary recommendations are required to ensure the proper growth of children with galactosemia.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.89-97
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• 2013

Purpose: We retrospectively investigated individuals who hadbeen identified by neonatal screening as potential galactosemia patients to determine the etiology of galactosemia. Methods: One hundred fifty-three patients referred to Korea Genetics Research Center due to high galactose level detected by neonatal screening test between February 2005 and May 2013 were examined. Galactose and galactose-1-phosphate levels were measured by using a fluoro metric microplate reader. Lactose free diet was initiated immediately after confirmed by urine Clinitest. If reducing sugar was negative, we employed abdominal sonogram and echocardiogram to check for possible porto-systemic shunt. Results: Fifteen patients were diagnosed with galactosemia. One patient had galactokinase (GALK) deficiency; four had UDP galactose-4-epimerase (GALE) deficiency; two had citrin deficiency; and four had porto-systemic shunt. Two had unknown causes of galactosemia. Conclusion: In addition to genetic defects of GALT, GALK and GALE, citrin deficiency or porto-systemic shunt could also cause galactosemia. It is crucial to carry out differential diagnosis to determine the cause of galactosemia.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.58-63
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• 2012

Classical galactosemia (OMIM# 230400) is an autosomal recessive disorder of carbohydrate metabolism, due to a complete loss in galactose-1-phosphate uridyltransferase (GALT; E.C.2.7.7.12) enzyme activity. It caused by mutations in the GALT gene (OMIM$^*$ 606999) that is located at chromosome 9p13. The GALT enzyme deficiency results in a build-up of galactose and galactose-1-phosphate, causing life threatening complications such as feeding problems, failure to thrive, hepatocellular damage, bleeding and sepsis. However, Duarte galactosemia, a variant form of GALT deficiency, has residual GALT enzyme activities in erythrocytes and do not have manifest the symptoms of classical galactosemia. Since the advent of newborn screening (NBS) for galactosemia, we rarely encounter such overwhelmingly ill newborns. The positive NBS with no symptoms indicates the possibility of Duarte galactosemia besides a simple false positive and it has to be differentiated from classical galactosemia which is a medical emergency. In Korea, detection rate of Duarte galactosemia is very low and its genetic information is restrictive, too. We report a case of monozygotic twins with D/G galactosemia compound heterozygote in proven by the mutational analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.

• Proceedings of the PSK Conference
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• 2003.10b
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• pp.214.4-215
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• 2003

In galactose metabolic pathway : there are three inborn metabolic disorders galactokinase deficiency (galactosemia type II), galactose-1-phosphate uridyl transferase(GALT) daficiency (galactosemia type I ), uridine diphosphate galactose-4-epimerase deficiency (galactosemia typeIII). Among these disorders GALT deficiency is the most severe and common. Infants with GALT deficiency fail to metabolize galactose-1-phosphate. As a consequence, galactose-1-phosphate and galactose are accumulated in blood in which GALS enzyme plays the role of a pathognomonic marker. (omitted)

• Journal of the Korean Society of Food Culture
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• v.37 no.2
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• pp.143-152
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• 2022

Galactosemia is a rare genetic metabolic disease caused by galactose and its metabolites generated during carbohydrate metabolism, which is relatively rare in Asian countries, including Korea. Patients with galactosemia should be treated with a galactose-restricted diet. However, information is lacking about the exact content of galactose in food, and dietary guidelines for patients with galactosemia in Korea. This study aims to recognize the difficulties faced by parents and clinical experts of patients with galactosemia, and understand their demands. Totally, 5 parents of children diagnosed with galactosemia and 5 clinical professionals participated in the focus group interviews. The parents' interview focused on the daily life of the patient, which included diet and social difficulties. The clinical experts mainly answered about medical care, including the number and status of patients, and their suggestions for effective treatment. Most parents were worried about social isolation due to conflicts in the family as well as in society due to a lack of understanding of the disease. The clinical experts stated the absence of a disease management system as the greatest problem. An integrated support system for patients with galactosemia, which includes appropriate dietary guidelines by considering the domestic environment, is required.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.13 no.2
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• pp.126-130
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• 2013

Galactosemia is a metabolic disorder inherited by the recessive autosome, and appears by the deficiency of one enzyme out of GALT (Galactose-1-Phosphate Uridyltransferase), GALK (galactokinase), and GALE (epimerase) enzymes, among which the GALT deficiency disease is denominated as classical galactosemia and known to have symptoms such as severe nausea, jaundice, hepatomegaly, sucking difficulty and so on. We report the case of a 16-day-old female baby with the new p.A101D mutation together with p.N413d in the GALT gene analysis found in the neonatal screening test and diagnosed to have galactosemia by the GALT deficiency through the enzyme analysis. For the prognosis prediction, the treatment, the genetic counseling and the prenatal diagnosis of the patients, more detailed genetic diagnosis is required by performing GALT gene analysis, and it is deemed to be necessary to analyze the correlation between the phenotype and the genotype of the domestic galactosemia patients.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.1
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• pp.14-23
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• 2020

Classic galactosemia is a rare genetic disorder in Korea and the mutation spectrum in Koreans differs from that of Caucasians and non-Caucasian Americans. Classic galactosemia is considered a metabolic complication that is preventable by early detection via newborn screening and dietary treatment. In this most recent case of Korean galactosemia, the patient showed early initiation of clinical symptoms, which manifested during the neonatal period. The patient achieved normalization via diet management to correct metabolic complications. In addition, we assessed the characteristics of mutations in 25 Korean galactosemia cases via a literature review of studies associated with classic galactosemia.

• 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.15 no.3
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• pp.101-109
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• 2015

Classic galactosemia (OMIM #230400) is an autosomal recessive inherited metaboic disorder caused by a deficiency of the galactose-1-phosphate uridyltransferase (GALT, EC2.7.7.12) due to mutations in the GALT gene. If untreated, classic galactosemia is a potentially lethal disease presenting with poor feeding, vomiting, jaundice, liver failure, increased bleeding tendency, and septicemia leading to death within a few days after birth. Since 2006, expansion of newborn screening has been enabled the early diagnosis and early intervention of classic galactosemia in Korea. However, newborn screening, followup testing for confirmatory diagnosis and intervention for galactosemia continue to present challenges. In Korea, the prevalence of the classic galactosemia is considered relatively low compared to that of western countries. And the genotype is also clearly different from those of other population. Therefore, our own guideline for confirmatory diagnosis and intervention is needed. Here, the diagnostic algorithm for galactosemia after positive newborn screening result in Korea has been proposed. Considering the low prevalence and different mutation spectrum in Koreans, the early mutation analysis of GALT gene could be a useful tool for the accurate diagnosis and making any treatment decision.

• 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.