한국인 좌심실 비대증 환자들에서 파브리병 선별검사의 의의

박형두,조성윤,이수연,전은석,박승우,이상훈,이상철,최진오,박성지,장성아,김형관,기창석,김종원,진동규,Park, Hyeong-Du,Jo, Seong-Yun,Lee, Su-Yeon,Jeon, Eun-Seok,Park, Seung-U,Lee, Sang-Hun,Lee, Sang-Cheol,Choe, Jin-O,Park, Seong-Ji,Jang, Seong-A,K 대한유전성대사질환학회 2014 대한유전성대사질환학회지 Vol.14 No.2

목적: 파브리병(Fabry disease)은 alpha-galactosidase A의 결핍으로 인하여 리소좀에 globotriaosylceramide(Gb3)가 축적되어 여러 장기에 이상을 일으키는 질병이다. 본 연구에서는 파브리병의 만성 합병증 중 심장 질환을 주로 보이는 환자들, 그 중에서도 좌심실 비대증을 보이는 한국인 환자들을 대상으로 파브리병의 빈도를 알아보고자 하였다. 방법: 좌심실비대증을 진단받은 환자 257명을 연구대상으로 선정하였고, 남성이 172명(평균 56세, 범위 30-81세), 여성이 84명(평균 66세, 범위 45-85세)이었다. 파브리병 선별을 위하여 고성능액체크로마토그래피-탠덤질량분석기를 이용하여 소변 Gb3 농도를 측정하였다. 확진은 형광분석법에 의한 말초혈액의 alpha-galactosidase A 활성도와 염기서열분석법에 의한 GLA 유전자 돌연변이 유무를 검사하여 이루어졌다. 결과: 소변 Gb3 검사에서 cutoff (25 ug/mmoL creatinine)를 초과하는 환자는 4명이었지만, 최종적으로 추가 검사를 통해 진단된 파브리병 환자는 여성 환자 한 명이었다(1/257명, 0.4%). 확진된 환자는 54.3 ug/mmoL creatinine의 Gb3 농도와 15.5 nmole/hr/mg protein (참고범위, $55.2{\pm}12.7nmole/hr/mg$ protein)의 alpha-galactosidase A 활성도를 보였다. GLA 유전자에서는 c.796G>A (p.D266N) 돌연변이가 이형접합체로 관찰되었다. 추가로 시행한 가족검사에서 환자의 딸은 아직 파브리병의 증상을 보이지 않았지만, 엄마와 같은 GLA 돌연변이(c.796G>A)를 가지고 있었으며, alpha-galactosidaseA 활성도는 42.5 nmole/hr/mg protein, 소변 Gb3 농도는 25.5 ug/mmoL creatinine을 나타냈다. 결론: 한국인 좌심실 비대증을 가진 환자들에서 파브리병의 유병율은 0.4%였다. 유병율이 낮아 보임에도 불구하고, 파브리병 진단 전 환자와 가족 구성원을 발견할 수 있는 장점 덕분에 선별검사의 의의가 있는 것으로 사료된다. Objectives: Fabry disease (FD) is a lysosomal storage disease caused by the inappropriate accumulation of globotriaosylceramide (Gb3) in tissues due to a deficiency in the enzyme ${\alpha}$-galactosidase A. Hypertrophic cardiomyopathy is one of the chronic complications of FD. We tried to evaluate the prevalence of Fabry disease in the Korean patients with left ventricular hypertrophy (LVH). Methods: A total of 257 patients with LVH were recruited and they were 172 males (mean 56 years, range 30-81 years) and 84 females (mean 66 years, range 45-85 years). Urinary Gb3 was used to screen FD by high performance liquid chromatography-tandem mass spectrometry. Confirmatory tests were done by alpha-galactosidaseA activity using fluorometric assay and by GLA mutation analysis using sequencing. Results: Four patients were screening positive by urinary Gb3 analysis (cutoff, 25 ug/mmol creatinine). But, one female patient was diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis (1/257 patients, 0.4%). She showed 54.3 ug/mmoL creatinine of Gb3 and 15.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alphagalactosidase A activity. And she had a heterozygous GLA mutation of c.796G>A (p.D266N). Her daughter was found to be a carrier for FD confirmed by GLA mutation analysis. Asymptomatic carrier showed 25.5ug/mmol creatinine of Gb3 and 42.5 nmole/hr/mg protein (reference range, $55.2{\pm}12.7nmole/hr/mg$ protein) of alpha-galactosidase A activity. Conclusions: The prevalence of FD in Koran patients with LVH was detected as 0.4%. Although the prevalence seems to be low, screening studies are of great importance for detecting hidden cases as well as for identifying other effected family members.

The Relationship between Lewis/Secretor Genotypes and Serum Carbohydrate Antigen 19-9 Levels in a Korean Population

박형두,박경운,송정한,기창석,한규섭,김진규 대한진단검사의학회 2010 Annals of Laboratory Medicine Vol.30 No.1

Background : The Lewis histo-blood group system consists of 2 major antigens-Lea and Leb-and a sialyl Lewis antigen-carbohydrate antigen (CA) 19-9. We investigated the distribution of Lewis genotypes and evaluated the relationship between the Lewis/Secretor genotypes and the serum level of CA 19-9 in a Korean population to identify whether the serum CA 19-9 levels are influenced by the Lewis/Secretor genotypes. Methods : The study included 242 individuals who had no malignancies. Lewis genotyping was performed for the 59T>G, 508G>A and 1067T>A polymorphic sites. The Secretor genotype was determined through analysis of the 357C>T and 385A>T polymorphic sites and the fusion gene. Serum CA 19-9 level was analyzed using an electrochemiluminescence immunoassay. Results : Individuals carrying the 3 common genotypes-Le/Le, Le/le59,508, and Le/le59,1067-accounted for 95% of the study population. In the Korean population, the allelic frequencies of Le, Le59, le59,508, and le59,1067 were 0.731, 0.010, 0.223, and 0.035, respectively. We found a significant difference in serum CA 19-9 concentrations among the 9 Lewis/Secretor genotype groups (P<0.001). The serum CA 19-9 levels in subjects with genotype groups 1 and 2 (Le/- and se/se) were higher than those with genotype groups 3-6 (Le/- and Se/-; 15.63 vs 6.64 kU/L, P<0.001). Conclusions : Le/Le, Le/le59,508, and Le/le59,1067 are frequent Lewis genotypes in Koreans. Because serum CA 19-9 levels are significantly influenced by the Lewis/Secretor genotypes, caution is suggested when interpreting the serum CA 19-9 levels. (Korean J Lab Med 2010;30:51-7)

혈소판불응증 환자의 HLA적합혈소판 수혈효과

박형두,김양현,박윤준,한규섭,박명희 대한진단검사의학회 2004 Annals of Laboratory Medicine Vol.24 No.6

Background : Patients with platelet refractoriness as a result of human leukocyte antigen (HLA) alloimmunization can be effectively managed by transfusion of HLA-matched platelets. In this study, we have retrospectively evaluated the effect of HLA-matched platelet transfusion using a hospitalbased donor pool of 450 HLA typed donors. Methods : For 17 patients showing platelet refractoriness to random donor platelets [1 hr corrected count increment (CCI) <7,500/ L/m2; mean 1,887/ L/m2] and HLA alloimmunization, 78 single-donor apheresis platelets from 62 donors were transfused. HLA compatible donors were selected based on HLA match and patients’ HLA antibody specificities. Results : An average of 4.6 transfusions per patient were done and effective post-transfusion platelet increments were obtained with a mean 1 hr CCI of 17,813/ L/m2. In 76% (59/78) of the total transfusions, an effective platelet increment (1 hr CCI ≥7,500/ L/m2) was obtained. HLA crossmatch (NIH method) negative patients showed a significantly higher platelet increment compared with crossmatch positive patients (23,877 vs 10,823; P=0.000). Although better transfusion effect was obtained in higher grade HLA match of A-B2U by selection of HLA compatible donors according to patients’ HLA antibody specificities, an effective platelet increment was obtained in lower grade matches as well. Platelets transfused ≤24 hours after collection showed a significantly higher platelet increment compared with those stored >24 hours (20,325 vs 11,417; P=0.029). Conclusions : Although many low grade matched donors were selected due to a relatively small size of HLA typed donor pool, effective platelet increments were obtained by selecting platelet donors on the basis of HLA antibody specificity. (Korean J Lab Med 2004; 24: 426-31) 배경 : HLA 동종면역반응에 의한 혈소판불응증 환자에게는HLA적합혈소판을 수혈하면 혈소판 증가효과를 얻을 수 있다. 본연구에서는 서울대병원에서 직원 450명을 대상으로 수립한 소규모의 HLA적합혈소판 헌혈자 풀을 이용하여 혈소판불응증 환자에게 HLA적합혈소판을 수혈한 후 그 효과를 후향적으로 분석하였다.방법 : 임의헌혈 혈소판에 대해 혈소판불응증(1시간 CI<7,500/ L/m2; 평균 1,887/ L/m2)과 HLA 동종면역반응(PRA≥50%)을 보인 17명의 환자들에 대하여 62명의 헌혈자로부터 총78회의 혈소판 성분채집을 시행하였다. HLA적합혈소판 헌혈자들은 HLA 적합 정도와 환자들의 HLA 항체 특이성에 근거하여선정되었다.결과 : 한 환자당 평균 4.6회의 HLA적합혈소판 수혈을 받았고수혈 후 환자의 혈소판은 1시간 CI가 17,813/ L/m2로 증가하였다. 총 수혈건수의 76% (59/78회)에서 혈소판 수혈효과가 있었다(1시간 CCI ≥7,500/ L/m2). HLA 교차시험(NIH법)에서음성인 경우 양성에 비해 1시간 CI가 유의하게 높았다 (23,877±16,583 vs 10,823± 9,264; P=0.000). HLA 적합도가 더 적합한A-B2U군에서 덜 적합한 군에 비해 더 좋은 수혈효과(1시간 CI=23,853/ L/m2)를 보였으나, 환자의 HLA 항체 특이성에 따라적합한 헌혈자를 잘 선정함으로써 적합도가 가장 낮은 군에서도상당한 수혈효과(C, D군 1시간 CCI=17,062/ L/m2)가 있었다.한편, 혈소판 채집 후 24시간 이내에 수혈하는 것이 24시간 지나서 수혈하는 경우에 비해 CCI 증가 유의하게 높았다(20,325±16,590 vs 11,417± 10,726; P=0.029). 결론 : 상대적으로 적은 수의 헌혈자 등록 규모에도 불구하고, HLA 항체 특이성에 따라 적합한 헌혈자를 선정하여 수혈을 실시함으로써 대부분의 환자에서 좋은 수혈효과를 얻을 수 있었다.

특집 ERP : 부록 ; geneERP

박형두 한국정보처리학회 1999 정보처리학회지 Vol.6 No.5

N/A

Jaffe법과 효소법으로 측정한 Roche Modular D, Cobas 8000 c702 및 Beckman Coulter AU5800 장비 간의 혈청 Creatinine 비교

오종원,박형두 대한진단검사의학회 2020 Laboratory Medicine Online Vol.10 No.1

Background: Creatinine (Cr) is a representative biomarker reflecting renal function. In this study, we compared serum Cr levels using Roche Modular D (Roche Diagnostics, Germany), Roche Cobas 8000 c702 (Roche Diagnostics), and AU5800 (Beckman Coulter, USA). In addition, we assessed the differences in Cr measurements using the Jaffe and enzymatic methods. Methods: Precision, linearity, and methods were evaluated in accordance with CLSI guidelines. Serum Cr was measured by Modular D following the Jaffe method, and serum Cr was measured by Cobas 8000 c702 and AU5800, following the Jaffe and enzyme methods. Results: All of the total coefficients of variations (CVs) were below 5%. Linearity was observed in the performance ranges evaluated (r>0.99, slope: 0.965 and 0.955). When Modular D and Cobas 8000c 702 were compared, the slope and y-intercept were 0.9928 (95% confidence interval [CI]: 0.9802 to 1.000) and -0.0156 (95% CI: -0.0200 to -0.0054), respectively. The slope and y-intercept were 0.9811 (95% CI: 0.9570 to 0.9951) and -0.0484 (95% CI: -0.0638 to -0.0297) when Modular D and Au5800 were compared. Serum Cr measured by Cobas 8000 c702 and AU5800 using the Jaffe method were 3.2% and 6.9% lower than the values measured by Modular D, respectively. Both Modular D and Cobas 8000 c702 showed acceptable accuracies. Conclusions: Serum Cr measurements using Cobas 8000 c702 and AU5800 were comparable to those measured by Modular D, and showed satisfactory precision and linearity; thus, these techniques could be useful for clinical laboratories. 배경: 혈청 크레아티닌은 신장 기능을 평가하는 대표적인 표지자 이다. 본 연구에서는 Modular D (Roche Diagnostics, Germany) 장 비와 Cobas 8000 c702 (Roche Diagnostics) 및 AU5800 (Beckman Coulter, USA) 장비의 크레아티닌 결과를 비교하였다. 또한, Jaffe법 과 효소법으로 측정한 혈청 크레아티닌 결과의 차이를 비교하였다. 방법: CLSI 지침을 참고하여 정밀도, 직선성, 상관성 평가 등을 수 행하였으며, 100명의 환자 검체를 이용하여 세 종류의 장비에서 혈 청 크레아티닌 값을 측정하였다. Modular D에 의한 혈청 크레아티 닌은 Jaffe법을 사용하여 측정하였고, Cobas 8000 c702 및 AU5800 의 혈청 크레아티닌은 Jaffe법 및 효소법의 두 가지 방법을 사용하 여 각각 측정하였다. 결과: 전체 변이계수는 모두 5% 미만이었으며, 직선성도 우수하였 다. Modular D와 Cobas 8000 c702의 회귀분석 상관식에서 기울기 는 0.9928 (95% 신뢰구간 0.9802~1.0000), Y 절편은 -0.0156 (95% 신뢰구간 -0.0200~-0.0054)였으며, Modular D와 Au5800간 상관식 에서 기울기는 0.9811 (95% 신뢰구간 0.9570~0.9951), Y 절편은 -0.0484 (95% 신뢰구간 -0.00638~-0.0297)이었다. Cobas 8000 c702 와 AU5800에서 Jaffe법으로 측정한 혈청 크레아티닌 측정 결과는 Jaffe법을 이용해 Modular D로 측정한 혈청 크레아티닌 결과에 비 해 각각 평균적으로 3.2%와 6.9% 더 낮은 값을 나타냈다. Modular D와 Cobas 8000 c702는 모두 정확도 평가에서 만족스러운 결과를 보였다. 결론: Cobas 8000 c702와 Beckman Coulter AU5800으로 시행한 혈청 크레아티닌 검사는 정밀도와 직선성에 있어서 만족스러운 성 능을 보였으며, Roche Modular D 검사 결과와 적절한 상관성을 보 여서 임상검사실에 유용할 것이라고 생각한다.

Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency

우혜인,박형두,이용화,이동환,기창석,이수연,김종원 대한진단검사의학회 2011 Annals of Laboratory Medicine Vol.31 No.1

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid β-oxidation. It is characterized by hypoketotic hypoglycemia, hyperammonemia, seizure, coma, and sudden infant death syndrome-like illness. The most frequently isolated mutation in the acyl-CoA dehydrogenase, medium-chain (ACADM) gene of Caucasian patients with MCADD is c.985A>G, but ethnic variations exist in the frequency of this mutation. Here, we describe 2 Korean pediatric cases of MCADD, which was detected during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The levels of medium-chain acylcarnitines, including octanoylcarnitine (C8), hexanoylcarnitine (C6), and decanoylcarnitine (C10), were typically elevated. Molecular studies revealed that Patient 1 was a compound heterozygote for c.449_452delCTGA (p.Thr150ArgfsX4) and c.461T>G (p.L154W) mutations, and Patient 2 was a compound heterozygote for c.449_452delCTGA (p.Thr150ArgfsX4) and c.1189T>A (p.Y397N) mutations. We also detected asymptomatic MCADD in some patients by using a newborn screening test and confirmed it by ACADM mutation analysis. This report presents evidence of the biochemical and molecular features of MCADD in Korean patients and, to the best of our knowledge, this is the first report of the c.461T>G mutation in the ACADM gene.

Smaller Mean LDL Particle Size and Higher Proportion of Small Dense LDL in Korean Type 2 Diabetic Patients

서성환,박형두,김세원,배지철,단현경,정혜수,허규연,김재현,김광원,이문규 대한당뇨병학회 2011 Diabetes and Metabolism Journal Vol.35 No.5

Background: Small dense low density lipoprotein (sdLDL) has recently emerged as an important risk factor of coronary heart disease. Methods: The mean LDL particle size was measured in 203 patients with type 2 diabetes mellitus (T2DM) and 212 matched subjects without diabetes using polyacrylamide tube gel electrophoresis. Major vascular complications were defined as stroke, angiographically-documented coronary artery disease or a myocardial infarction. Peripheral vascular stenosis, carotid artery stenosis (≥50% in diameter) or carotid artery plaque were considered minor vascular complications. Overall vascular complications included both major and minor vascular complications. Results: Diabetic patients had significantly smaller mean-LDL particle size (26.32 nm vs. 26.49 nm) and a higher percentage of sdLDL to total LDL compared to those of subjects without diabetes (21.39% vs. 6.34%). The independent predictors of sdLDL in this study were serum triglyceride level and body mass index (odds ratio [OR], 1.020 with P<0.001 and OR 1.152 with P<0.027, respectively). However, no significant correlations were found between sdLDL and major vascular complications (P=0.342), minor vascular complications (P=0.573) or overall vascular complications (P=0.262) in diabetic subjects. Conclusion: Diabetic patients had a smaller mean-LDL particle size and higher proportion of sdLDL compared to those of subjects without diabetes. Obese diabetic patients with hypertriglyceridemia have an increased risk for atherogenic small dense LDL. However, we could not verify an association between LDL particle size and vascular complications in this study.

CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay

홍지혜,박형두,최리화,진동규,김재현,기창석,이수연,송정한,김종원 대한진단검사의학회 2015 Annals of Laboratory Medicine Vol.35 No.5

CYP21A2 mutation analysis of congenital adrenal hyperplasia (CAH) is challenging because of the genomic presence of a homologous CYP21A2 pseudogene and the significant incidence of pseudogene conversion and large deletions. The objective of this study was to accurately analyze the CYP21A2 genotype in Korean CAH patients using a combination of complementary methods. Long-range PCR and restriction fragment length polymorphism analyses were performed to confirm valid amplification of CYP21A2 and to detect large gene conversions and deletions before direct sequencing. Multiple ligation-dependent probe amplification (MLPA) analysis was conducted concurrently in 14 CAH-suspected patients and six family members of three patients. We identified 27 CYP21A2 mutant alleles in 14 CAH-suspected patients. The c.293-13A>G (or c.293-13C>G) was the most common mutation, and p.Ile173Asn was the second, identified in 25% and 17.9% of alleles, respectively. A novel frame-shift mutation of c.492delA (p.Glu 164Aspfs*24) was detected. Large deletions were detected by MLPA in 10.7% of the alleles. Mutation studies of the six familial members for three of the patients aided in the identification of haplotypes. In summary, we successfully identified CYP21A2 mutations using both long-range PCR and sequencing and dosage analyses. Our data correspond relatively well with the previously reported mutation spectrum analysis.

세 종류의 혈액 검체에서 Samsung LABGEO PT10과 Variant II Turbo의 HbA1c 측정능 비교 평가

박종은,박형두 대한진단검사의학회 2016 Laboratory Medicine Online Vol.6 No.3

배경: 당화혈색소(Hemoglobin A1c)는 혈당 조절을 확인하는 좋은 표지자이며, 여러 가지 방법으로 측정할 수 있다. 최근 국내에서 현장검사로서 사용 가능한 LABGEO PT10 (Samsung Electronics, Korea) HbA1c 검사가 개발되었다. 이에, 세 종류의 혈액 검체에서 HbA1c 측정값을 비교 평가하고자 하였다방법: LABGEO PT10에서 측정한 검체별 HbA1c 결과는 Bio-Rad Variant II Turbo (Bio-Rad Laboratories, USA)에서의 측정값을 참고값으로 하여 비교하였다. 세 종류의 검체는 모세혈, EDTA 전혈, 리튬-헤파린 전혈을 준비하였다. 결과: LABGEO PT10에서 측정한 모세혈 HbA1c와 Variant II Turbo에서 측정한 EDTA 전혈 HbA1c 사이의 상관계수(r)는 0.9619였다. 한편, LABGEO PT10에서 측정한 모세혈 HbA1c와 Variant II Turbo에서 측정한 리튬-헤파린 전혈 HbA1c 사이의 상관계수(r)는 0.9619, LABGEO PT10에서 측정한 모세혈 HbA1c와 EDTA 전혈 HbA1c 사이의 상관계수는 0.9697, LABGEO PT10에서 측정한 모세혈 HbA1c와 리튬-헤파린 전혈 HbA1c 사이의 상관계수는 0.9724, LABGEO PT10에서 측정한 EDTA HbA1c와 리튬-헤파린 전혈 HbA1c 사이의 상관계수는 0.9730이었다. 결론: LABGEO PT10은 기존 방법과 비교될만한 적절한 성능으로 당화혈색소를 측정하였으며, 정맥혈을 채혈하기 어려운 상황의 환자들에게 모세혈로 검사함으로써 유용하게 사용될 수 있을 것으로 기대된다. Background: Hemoglobin A1c (HbA1c) is a good marker for monitoring glycemic control. The Samsung LABGEO PT10 HbA1c test (Samsung Electronics, Korea) was developed as a point-of-care testing approach. This study evaluated the levels of HbA1c in three different types of blood specimens using two different methods. Methods: We used correlation analyses to compare the results obtained using Samsung LABGEO PT10 and Bio-Rad Variant II Turbo (Bio-Rad Laboratories, USA) to determine the levels of HbA1c in three different types of blood samples: capillary blood, EDTA whole blood, and lithium (Li)-heparin whole blood. Results: The correlation coefficient for the level of HbA1c in capillary blood based on LABGEO PT10 vs. that in EDTA whole blood based on the Variant II Turbo was r=0.9619; that in capillary blood based on LABGEO PT10 vs. that in Li-heparin whole blood based on the Variant II Turbo was r=0.9619; that in capillary blood vs. that in EDTA whole blood based on the LABGEO PT10 was r=0.9697; that in capillary blood vs. that in Li-heparin whole blood based on the LABGEO PT10 was r=0.9724; and that in EDTA whole blood vs. that in Li-heparin whole blood based on the LABGEO PT10 was r=0.9730. Conclusions: The LABGEO PT10 was suitable for analyzing HbA1c. The results for the measurement of HbA1c levels in capillary blood were comparable to that in the whole blood samples. Additionally, LABGEO PT10 can be used for patients who are unable to take venipuncture.

A Novel Mutation (c.200T>C) in the NAGLU Gene of a Korean Patient with Mucopolysaccharidosis IIIB

김영은,박형두,기창석,이수연,김종원,조성윤,진동규,장미애 대한진단검사의학회 2013 Annals of Laboratory Medicine Vol.33 No.3

Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disorder (LSD) caused by abnormalities of the enzyme α-N-acetylglucosaminidase (NAGLU) that is required for degradation of heparan sulfate. The patient in this study was a 4-yr-old boy. He presented with normal height and weight, pectus carinatum, and multiple persistent Mongolian spots on his back. He had mild dysmorphic features with prominent speech developmental delays and, to a lesser extent, motor developmental delays. The cetylpyridinium chloride precipitation test revealed excessive mucopolysacchariduria (657.2 mg glycosaminoglycan/g creatinine;reference range, <175 mg glycosaminoglycan/g creatinine). Thin layer chromatography showed urinary heparan sulfate excretion. NAGLU enzyme activity was significantly decreased in leukocytes (not detected; reference range, 0.9-1.51 nmol/hr/mg protein)as well as in plasma (0.14 nmol/hr/mg protein; reference range, 22.3-60.9 nmol/hr/mg protein). PCR and direct sequencing analysis of the NAGLU gene showed that the patient was a compound heterozygote for 2 mutations: c.200T>C (p.L67P) and c.1444C>T (p.R482W). The c.200T>C mutation was a novel finding. This is the first report of a Korean patient with MPS IIIB who was confirmed by molecular genetic analyses and biochemical investigation.