• Clinical and Experimental Pediatrics
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• 제57권7호
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• pp.329-332
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• 2014

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal onset with severe neurological abnormality to a normal, asymptomatic phenotype. Although 3MCC deficiency was previously considered to be rare, it has been found to be one of the most common metabolic disorders in newborns after the neonatal screening test using tandem mass spectrometry was introduced. Additionally, asymptomatic 3MCC deficient mothers have been identified due to abnormal results of unaffected baby's neonatal screening test. Some of the 3MCC-deficient mothers show symptoms such as fatigue, myopathy, or metabolic crisis with febrile illnesses. In the current study, we identified an asymptomatic 3MCC deficient mother when she showed abnormal results during a neonatal screening test of a healthy infant.

• 대한유전성대사질환학회지
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• 제6권1호
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• pp.24-31
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• 2006

Purpose : The Ministry of Health and Social Affairs adopted newborn screening for the low-income families in 1991 and expanded in 1997 to cover all newborns. At the beginning of the program 6 diseases were selected for screening but the number of screening items had been reduced to two (congenital hypothyroidism and phenylketonuria) from the year 1995. Now, the government program has a fifteen year history. The purpose of this study was to analyze results of neonatal screening tests and prevalence at birth of phenylketonuria and congenital hypothyroidism in Korea. Methods : The results of neonatal screening tests were collected from public health centers during 15 years from 1991 to 2005. These data were analyzed for number of tested newborns and prevalence at birth of the inborn errors of metabolism. Results : Neonatal screening test for inborn error of metabolism was performed for 3,707,773 newborns for 15 years. Among newborns who were screened 718 congenital hypothyroidisms and 86 phenylketonurias were detected, and these presented an prevalence at bith of congenital hypothyroidism 1/5,164 and that of phenylketonuria 1/43,114. The total prevalence of two diseases was 1/4,612. Conclusion : National screening program should be expanded to include all items of screening tests for whole newborns and established correct prevalence of other inherited metabolic diseases in Korea.

• 말소리와 음성과학
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• 제1권2호
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• pp.51-59
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• 2009

This study was designed to investigate the effects of neonatal hearing screening program (NHSP) information on parental satisfaction with the Parent Satisfaction Questionnaire with Neonatal Hearing Screening Program (PSQ-NHSP) by Mazlan et al. (2006). The PSQ-NHSP consisted of four aspects including: information, personnel in charge of the hearing test, appointment activity, and overall satisfaction in the neonatal hearing screening program. A total of 106 parents (50 in the experimental group and 56 in the control group) participated in this study in one general hospital and two delivery clinics. The fifty parents in the experimental group received information and counseling with educational materials before filling out the PSQ-NHSP, but the fifty-six parents in the control group did not receive any counseling or education materials before completing the PSQ-NHSP. The PSQ-NHSP demonstrated excellent internal consistency reliability (${\sigma}=0.914$). The results of the study were as follows. First, the overall satisfaction ($3.77{\pm}0.81$) and personnel in charge of hearing test ($3.52{\pm}0.79$) aspects showed higher rates of satisfaction than the appointment activity aspect ($3.51{\pm}0.80$) for total subjects. Second, the overall parental satisfaction rate of the experimental group ($4.15{\pm}0.50$) was significantly higher than that of the control group ($3.09{\pm}0.53$) in all items. Lastly, thirty-two participants (30%) made at least one comment in response to the open-set items. A total of 29 comments were related to satisfaction with participating in the NHSP and II comments were related to dissatisfaction. In conclusion, to improve parental satisfaction it is important to provide parents with education and information about the NHSP before the test. In addition, PSQ-NHSP was found to be a useful instrument for identifying the benefits and shortfalls of the NHSP.

• Clinical and Experimental Pediatrics
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• 제49권11호
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• pp.1125-1139
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• 2006

In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia & congenital hypothyroidism for newborns delivered from low class pregnant women registered in health centers. Government decreased the test items from six to two, PKU & congenital hypothyroidism to increase test numbers with same budget from 1995. Government decided to test PKU & hypothyroidism for all newborns from 1997. 78 laboratories wanted to participate for neonatal screening test in 1999. Government didn't decide laboratory center for a certain district and placed responsibility on free competition. Government are planning to test 573,000 newborns from 1998, Government decided to screen 6 items PKU, congenital hypothyroidism, maple syrup urine disese, homocystinuria, galactosemia and congenital adrenal hyperplasia from 2006. 17 laboratores are participating now. The cost of screening test is supported by both the federal government and local government on a 40-60 basis. In case a patient with an inherited metabolic disease is diagnosed by screening of government program, special milk is provided at government's expense. Interlaboratory quality control was started 6 times a year from 1994. According to the government project, 3,707,773 newborns were screened. 86 PKU, 718 congenital hypothyroidism were detected. So incidence of PKU is 1/43,114 and congenital hypothyroidism is 1/4,612. Maeil dairy company produced new special formula for PKU, MMA and PA, MSUD, urea cycle disorder, homocystinuria, isovaleric acidemia from Oct. 1999. The cost benefit of performing screening procedures coupled with treatment has been estimated to be as high as 1.77 times in PKU, 11.11 times in congenital hypothyroidism than cost without screening. We are trying to increase the budget to test all newborns for Tandem mass sereening & Wilson disease from 2008. Now it is a very important problem to decrease laboratory numbers of neonatal screening in Korea. So we are considering 4-5 central laboratories which cover all newborns and are equipped with tandem mass spectrometer & enzyme immunoassay for TSH, 17OHP & enzyme colorimetric assay for galactose.

• 대한유전성대사질환학회지
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• 제14권1호
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• pp.1-9
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• 2014

Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia and congenital hypothyroidism for newborns delivered from low class pregnant women registered in health centers. Government decreased the test items from six to two, PKU and congenital hypothyroidism to increase test numbers with same budget from 1995. 78 laboratories wanted to participate for neonatal screening test in 1999. Government decided to screen six items of PKU, congenital hypothyroidism, maple syrup urine disease, homocystinuria, galactosemia and congenital adrenal hyperplasia from 2006. In 2014, thirteen laboratories are participating. Inter laboratory quality control was started 6 times a year from 1994. In case a patient with an inherited metabolic disease is diagnosed by screening of government program, special milk is provided at government's expense. According to the government project, from 1997 to 2013, 7,080,569 newborns were screened. 144 PKU, 2.451 congenital hypothyroidism were detected. So incidence of PKU is 1/49,170 and congenital hypothyroidism is 1/2,888. The cost benefit of performing screening procedures coupled with treatment has been estimated to be as high as 1.77 times in PKU, 11.11 times in congenital hypothyroidism than cost without screening. By January 2007, many European countries had expanded of their newborn screening programs by inclusion of Tandem mass spectrometry. We are trying to increase the budget to test all newborns for Tandem mass spectrometry from 2016. We are considering four to five central laboratories which cover all newborns and are equipped with tandem mass spectrometer & enzyme immunoassay for TSH, 17OHP & enzyme colorimetric assay for galactose. And I hope to expand test including Wilson disease screening test and lysosomal storage diseases.

• Clinical and Experimental Pediatrics
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• 제53권3호
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• pp.329-334
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• 2010

목 적 : 신생아 선별검사에서 고메티오닌혈증 소견을 보여 전원된 환아들의 혈액 및 소변 아미노산 분석과 호모시스테인 검사 결과를 통해 호모시스틴뇨증, 단독성 고메티오닌혈증, 일과성 고메티오닌혈증의 빈도를 알아보고 이들의 임상 양상에 대해 분석하고자 하였다. 방 법 : 1996년 1월부터 2009년 8월까지 신생아 선별검사상 고메티오닌혈증 또는 호모시스틴뇨증 의심 하에 본원으로 의뢰된 환아 58명을 대상으로 하였다. 각 환아의 입원 또는 외래 내원기록을 후향적으로 검토하여 혈액 및 소변 아미노산 분석 검사 결과, 혈장 호모시스테인(Homocysteine) 측정 결과 등을 조사하였다. 결 과 : 정밀검사 결과 분석을 통해 진단 기준에 따라 대상 환아 총 58명에서 28명(48.3%)가 정상으로 판명되었고 12명(20.7%)는 일과성으로 판명되었다. 호모시스틴뇨증과 단독성 고메티오닌혈증 환아들은 각각 3명(5.1%), 15명(25.9%)이었고 첫 내원시 평균 연령이 각 $50.0{\pm}22.5$일, $34.9{\pm}13.5$일이었으며 특수 분유와 식사 요법을 이용한 조기 치료 이후 현재까지 모두 정상 발달을 유지하고 있다. 결 론 : 신생아 선별검사에서 고메티오닌혈증을 보이는 경우 혈액과 소변 아미노산 분석을 시행함으로써, 치료하지 않을 경우 영구적인 기능 저하 및 발육 부진을 초래할 수 있는 호모시스틴뇨증 뿐만 아니라 비교적 양성 질환인 단독성 고메티오닌혈증을 진단할 수 있고 이러한 조기 진단과 치료를 통해 각 질환 환아의 정상적인 성장이 이루어질 수 있다는 점을 염두하여 이들의 조기 진단 및 추적 관찰을 시행해야 하겠다.

• 대한유전성대사질환학회지
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• 제13권2호
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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.

• 한국건강관리협회지
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• 제2권1호
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• pp.85-91
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• 2004

• Neonatal Medicine
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• 제18권2호
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• pp.370-373
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• 2011

Citrin deficiency는 염색체 7q21.3의 SLC25A13 유전자 돌연변이에 의해 발생하는 상염색체 열성질환으로 neonatal-onset type II citrullinemia (CTLN2) 및 adult-onset CTLN2로 분류된다. 생후 16일된 여아가 신생아 대사 검사에서 citrullinemia (CTLN)가 의심되었고 혈중 아미노산 분석에서 CTLN 및 고암모니아혈증을 보였고, SLC25A13 유전자 분석 결과 c.221C>T in exon4 and c.1645C in exon16 (p.[Ser74Phe]+[Gln549X]) 의 새로운 돌연변이가 발견되어 neonatal-onset CTLN2로 진단되었다. 저자들은 신생아 대사 검사에서 citrullinemia를 보이는 영아들에서 확진을 위한 유전자 검사 및 혈중 아미노산 분석이 필요하다고 생각한다.

• Journal of Genetic Medicine
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• 제5권2호
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• pp.111-118
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• 2008

목 적: 신생아 선별검사는 선천성 대사이상 질환을 조기에 진단하여 심각한 발달 지연이나 급성 질환, 심지어는 사망을 예방할 수 있어 점차 확산되고 있다. 본 연구에서는 우리나라에서 신생아 선별검사에 들어가는 비용과 시행하지 않을 때의 비용을 서로 비교하여 경제성 여부를 알아보고자 하였다. 대상 및 방법: 2005년 1월부터 2007년 12월까지 국내에서 단풍당뇨증, 호모시스틴뇨증, 갈락토스혈증 및 선천성 부신과형성증에 대한 신생아 선별검사를 받은 1,259,220명의 신생아를 대상으로 신생아 선별검사를 시행한 경우와 시행하지 않은 경우에 들어가는 비용을 비교하여 단풍당뇨증, 호모시스틴뇨증, 갈락토스혈증 및 선천성 부신과형성증에 대한 신생아 선별검사의 경제성 여부를 알아보고자 하였다. 결 과: 각 질환별로 신생아 선별 검사를 시행할 때와 시행하지 않을 때의 비용의 비를 분석해보면 단풍당뇨증이 1:0.5, 호모시스틴뇨증이 1:0.6로 낮은 유병률로 인해 검사를 시행하는 것이 손해였으며, 갈락토스혈증이 1:4.1, 선천성 부신과형성증이 1:2.9로 이득을 보여 전체적으로는 신생아 선별검사를 시행했을 때 총 2.0배의 이득이 있었다. 결 론: 단풍당뇨증, 호모시스틴뇨증, 갈락토스혈증, 선천성 부신과형성증에 대한 신생아 선별검사는 경제적 효용성 뿐만 아니라 개인의 삶의 질 향상을 위해서도 시행해야 하며 앞으로 윌슨병 등의 다른 유전성 대사질환에 대해서도 신생아 선별검사 시행을 고려해야 할 것이다.