애도 (불)가능의 신체와 문학의 정치성-한센병 소설을 중심으로-

김윤정 이화어문학회 2018 이화어문논집 Vol.46 No.-

Stories that depict Hansen's Disease have a relatively low status or literary significance in Korean literature. The reason for this is that such works are few, and notions of susceptibility to the disease mean that shame and disgust are added to it. The susceptibility to Hansen's Disease and patients precludes unimpaired condolence on a miserable life and heartbreaking death of people with Hansen's Disease. Only in a handful of works can we find the potential for resistance and political capability inherent in literature. This is because the history of disease sufferers’ life and death, desperately written in related novels, provides an opportunity for building a sympathetic field between patients and readers. People with Hansen’s Disease are depicted as undergoing damage and suffering to their life and body and also social inhospitality and their lives are recorded and spread by the medium of literature. Novels on Hansen's Disease seek to prove and testify bitter history by representing actual events and incidents in a realistic manner. Besides, novels on Hansen's Disease can recover the human lives of people with Hansen's Disease and restore the whole story of events and incidents which have been excluded in history. The literary significance and value of novels dealing with Hansen's Disease therefore lies in lamenting people with Hansen's Disease and healing their agony by the realistic description of the disease as an incident. In addition, their desire for living a humane life as universal humans rather than patients in an unusual situation gives an opportunity to stimulate deep empathy from general readers through the novels and form the sympathetic field through literature. 한국 문학에서 한센병 소설이 차지하는 위상이나 문학적 의의는 상당히 낮다. 이는 한센병 소설의 작품 수가 절대적으로 부족한 탓도 있지만, 한센병에 덧붙여진, 수치와 혐오라는 질병 감수성 때문이기도 하다. 한센병과 한센인에 대한 질병 감수성은 한센인의 비참한 삶과 애통한 죽음에대해 온전한 애도를 불가능하게 한다. 다만 몇몇 작품을 통해서 우리는문학에 내재한 잠재적 저항과 정치적 역량을 발견할 수 있다. 한센병 소설이 처절하게 기록해 낸 한센인들의 삶과 죽음의 역사는 한센인들을 애도하고 일반독자와 한센인 간의 공감장을 형성하는 계기를 마련하기 때문이다. 한센인이라는 이유로 생명과 신체에 대한 직접적인 위해와 고통을 당하고 사회적 냉대를 받아온 그들의 삶은 문학이라는 매개를 통해서 기록되고 전해질 수 있었다. 한센병 소설은 실제 사건과 사고를 사실적으로 재현해 냄으로써 한센인들의 비통한 역사를 증명하고 증언하고자 한다.또한 한센병 소설은 문학이 갖는 정치적 역량을 최대한 활용함으로써 문학으로서나마 한센인의 인간적 삶을 구원하고 역사적으로 배제되었던 사건과 사고의 내막을 복원할 수 있었다. 그러므로 한센병 소설의 문학적 의의와 가치는 바로 사건으로서의 질병을 사실적으로 기록함으로써 한센인을 애도하고 그들의 고통을 치유하는 데 있다고 하겠다. 아울러 환자로서의 특수한 처지가 아닌, 보편적 인간으로서 보다 인간다운 삶을 영위하고자 하는 한센인의 욕망은 소설이라는 형식을 통해 일반 독자에게도 깊은 공감을 자극하며 문학을 통한 공감장을 형성하는 계기를 마련하게 한다.

화류병과 문명병으로 표상된 일본과 조선의 근대 - 한일근대소설의 매독담론 -

안영희 ( An¸ Young-hee ) 한국외국어대학교 일본연구소 2020 日本硏究 Vol.0 No.86

韓日近代小説に表れた梅毒言説は帝国と植民地でそれぞれ異なる方式として表象される。梅毒モチーフの日本近代小説の特徴は次のようである。梅毒が使われた日本近代小説は私小説で多く現れた。日本近代小説では梅毒にかかった登場人物は作家、芸者、混血児が多く、遊郭と刑務所、拘置所が背景としてよく表れる。日本近代小説で梅毒は、主に遊郭で公娼と芸者を通して下流階層の男性たちがかかる病気として描かれる。日本で梅毒は花柳界に努めている人やそこを利用する人がかかる花柳病という認識がある。従って、梅毒にかかる男性は性欲管理が出来ず、野蛮的で不潔であるというイメージが強い。 梅毒モチーフの韓国近代小説の特徴は次のようである。韓国近代小説で梅毒が登場する小説は主に主流作家が書いている。李光洙、金東仁、朴泰遠、蔡萬植のように有名な作家の作品で梅毒がよく扱われている。韓国近代小説で梅毒にかかった登場人物はお金持ちの息子、新しい女、キーセンであり、背景は遊郭のみならず、一般家庭も含まれる。従って、朝鮮で梅毒は産業化と近代化の過程で文明の発達のために必然的に生じる文明病であり、上流階層にかかる認識が強い。特に知識人男性には、お金持ちがかかる文明病、新知識を受け入れた新しい女には放蕩な性生活のためにかかる花柳病という批判的な視線を適用している。このように韓日近代小説に表れた梅毒言説は帝国と植民地でそれぞれ異なる方式として表象されている。これは即ち、帝国の統治言説の差別的な適用と関連している。 The syphilis discourse in modern Korean and Japanese novels is represented in different ways in the empire and the colony. The characteristics of syphilis discourse in modern Japanese novels are as follows. Among the 56 works of modern Japanese novels that deal with syphilis, 29 fall into the so-called I-novel category. Syphilis is depicted as being predominantly contracted by men in the lower class through licensed prostitutes or geisha in the demimonde quarters. In Japan, syphilis was considered a social disease caused by people working in or visiting the red-light districts. Therefore, it was used to indicate that men suffering from syphilis could not properly manage their sexual desire and were unmodern, barbaric, and unsanitary. The characteristics of syphilis discourse in modern Korean novels are as follows. Most of the modern Korean novels featuring syphilis are those by mainstream writers. It is heavily featured in the works of famous writers such as Lee Kwangsoo, Kim Dongin, Park Taewon, and Chae Mansik. In modern Korean novels, there were many new women and sons of affluent families who had syphilis. Therefore, in Chosun, syphilis was recognized as a civilizational disease caused by the development of civilization in the process of industrialization and modernization. In particular, society took a biased view of syphilis, depending on the gender difference. In the case of rich intellectual men, syphilis was considered a civilizational disease. In contrast, in the case of modern new women who accepted new knowledge, it was regarded as a social disease caused by their sexual promiscuity.

Novel amyloid precursor protein mutation, Val669Leu (“Seoul <i>APP</i>”), in a Korean patient with early-onset Alzheimer's disease

Bagyinszky, Eva,Kang, Min Ju,Van Giau, Vo,Shim, KyuHwan,Pyun, Jung-Min,Suh, Jeewon,An, Seong Soo A.,Kim, SangYun Elsevier 2019 NEUROBIOLOGY OF AGING Vol.84 No.-

<P><B>Abstract</B></P> <P>In this study, a novel mutation in <I>APP</I> gene, Val669Leu (“Seoul <I>APP</I>”), was reported in a Korean female patient with Alzheimer's disease. She developed cognitive decline at 56 years of age, and her memory declined rapidly over one-year period from her 1st visit to the hospital. Her Mini-Mental State Examination scores dropped from 25/30 to 13/30. Two years later, she developed parkinsonian features, myoclonic jerk, and generalized seizure. As the disease progressed, aggravated diffuse brain atrophy and small-vessel ischemic lesion was also observed, and she became mute and vegetative in 4 years from the symptom onset. Magnetic resonance imaging showed mild medial temporal lobe and hippocampal atrophy, and 18F-fluoro-deoxyglucose positron emission tomography showed bilateral temporoparietal hypometabolism. Plasma amyloid oligomer analysis revealed highly elevated Aβ oligomers levels in the proband patient. Family history revealed positive without biochemical confirmation because family members testified similar type of cognitive decline from the proband's mother and one of her aunt/uncle. Her half-siblings did not present any signs of memory impairment. Sanger sequencing of the proband patient revealed a novel mutation in <I>APP</I> gene, Val669Leu, but mutation was not found in her unaffected half-sisters. A designed algorithm by Guerreiro et al. on early-onset Alzheimer's disease–associated mutations suggested the mutation as possibly pathogenic mutation. On the other hand, PolyPhen2 and SIFT tools suggested as otherwise. Since the mutation was located nearby the β-secretase cleavage site of APP, right next to the Swedish APP (Lys,Met670/671Asn,Leu) mutation, it was named as “Seoul <I>APP”</I> mutation. 3D modeling revealed that this mutation could result in significant changes in loop orientation of APP and also its intramolecular interactions. Hence, a novel <I>APP</I> Val669Leu mutation could alter the binding interactions between APP and β-secretase, which may influence the Aβ40 and Aβ42 generations.</P> <P><B>Highlights</B></P> <P> <UL> <LI> A novel variant in APP, Val669Leu, was found in a Korean patient, named Seoul APP. </LI> <LI> Proband patient developed disease phenotype in her 50s. </LI> <LI> Family history may be positive, and mutation may segregate with disease. </LI> <LI> Mutation is located nearby the beta-secretase site of APP, and potentially disturbs the enzyme mechanism. </LI> </UL> </P>

조중환의 번안소설과 열병의 상상력 -장티푸스의 변주와 형상화를 중심으로

박성호 한국현대소설학회 2024 현대소설연구 Vol.0 No.93

장티푸스는 20세기 중반까지 맹위를 떨쳤던 감염병으로 한국에서도 여러 차례유행한 바 있다. 이미 19세기 말부터 위생과 방역을 중심으로 한 대응이 이루어졌으며, 대중들에게도 주요한 감염병 가운데 하나로 폭넓게 인식되고 있었다. 하지만 문학 작품에서는 장티푸스가 직접적으로 등장하는 사례를 찾아보기 어렵다. 신경쇠약이 결핵, 천연두 등과 달리 장티푸스는 1910년대 초반까지도 거의소설에서 거론되지 않았다. 조중환의 번안소설인 「쌍옥루」나 「비봉담」에 이르러서야 비로소 등장하게 되는데, 이 역시 장티푸스를 병명을 직접적으로 채택하지는 않았다. 조중환의 번안소설에서 장티푸스는 감염병의 측면보다는 불명열(不明熱)의 일환으로 등장한다. 감염병임을 추론할 수 있는 서술이 작중에서 등장하기는 해도 발병의 중심에는 작중인물의 죄책감과 같은 심리적 요인이 강하게 작동한다. 이는19세기 영미소설이 채택한 neural fever와도 연결된 것으로, 열이라는 요소를 중심으로 작중의 갈등을 설명하거나 이를 해소하는 계기를 제시하였다. 다른 한편으로는 열병을 중심으로 하여 근대의료를 소설 속에 본격적으로 도입하는 계기를 마련하기도 했다. 혈액검사와 혈청주사, 체온 측정을 중심으로 한 진단과 치료는 모두 의사와 의료기관을 중심으로 이루어지며, 작중인물의 병을 치료하는 것 역시 의사의 역할로 분리된다. 같은 시기 소설에서 나타나는 신경쇠약이의료와는 무관하게 작중인물 간의 갈등 해소를 통해 치유된다는 점을 감안하면, 장티푸스를 중심으로 한 열병의 상상력은 소설에서의 근대의료를 구체화하는 데 적잖은 역할을 수행하였다고 볼 수 있다. 나아가서는 열병을 중심으로 결핵이나 신경쇠약과 같은 여타의 질병과도 연결될 수 있는 지점을 마련한다는 점도 주목할 필요가 있다. 이는 20세기 초 문학에서질병을 인식하고 형상화하는 양상을 살펴보는 데 또 다른 시각을 제공할 수 있을것이다. Typhoid fever was a rampant infectious disease until the mid-20th century, experiencing several outbreaks in Korea. Since the late 19th century, responses centered around hygiene and quarantine were implemented, and it was widely recognized as one of the major infectious diseases among the public. However, it is difficult to find cases where typhoid fever directly appears in literary works. Unlike neurasthenia, tuberculosis, or smallpox, typhoid fever was almost never mentioned in novels until the early 1910s. It was not until Jo Jung-hwan's adapted novels, such as "Ssangokru" and "Bibongdam," that typhoid fever finally made an appearance, albeit not adopting the disease name directly. In Jo Jung-hwan's adapted novels, typhoid fever appears more as a part of an unknown fever than from the aspect of an infectious disease. Although there are descriptions that allow readers to infer it as an infectious disease, psychological factors like the characters' guilt play a strong role at the outbreak's center. This is connected to the neural fever adopted in 19th-century English and American novels, where fever is central to explaining conflicts within the story or providing an opportunity for resolution. On the other hand, these novels also provided an opportunity to formally introduce modern medicine into the story, centered around fever. Diagnosis and treatment focused on blood tests, serum injections, and temperature measurements are all conducted by doctors and medical institutions, separating the act of curing the characters' diseases as the doctors' role. Considering that neurasthenia, appearing in novels from the same period, is healed through the resolution of conflicts between characters independently of medical intervention, the imagination of fever centered around typhoid fever plays a significant role in concretizing modern medicine in literature. Furthermore, it is worth noting that fever, centered around typhoid, creates connections with other diseases such as tuberculosis and neurasthenia. This offers another perspective in examining how diseases were recognized and visualized in early 20th-century literature.

1900-1910년대 신문연재소설에 나타난 병원의 역할과 의미

박성호 고려대학교 한국언어문화학술확산연구소 2023 Journal of Korean Culture Vol.63 No.-

1900-1910년대 신문연재소설에는 의료와 관련된 다양한 요소들이 등장한다. 이 중 병원은 질병이나 의사, 미신 등에 비하면 등장하는 빈도는 상대적으로 적다. 그러나 소설에서 나타나는 병원의 역할이나 의미는 다른 요소들 못지않게 시사하는 바가 크다. 1900년대 신소설에서 병원은 당대의 혼란과 모순으로부터 작중인물을 보호하고 나아가서는 모순과 갈등이 해소되는 계기를 마련하는 공간이었다. 작중인물이 병원에 의탁하게 되는 이유는 질병보다는 상해로 인함이었으며, 이는 외부세계의 억압과 모순이 빚어낸 바였다. 병원은 이러한 세계로부터의 피난처 역할을 했으며, 소설에서 중요한 전환점을 제공하기도 했다. 1910년대 초 ≪매일신보≫에서는 당시 총독부 정치의 선진성이 부각되어야 한다는 정치적 요구가 반영되어야 했다. 하지만 이러한 요구를 효과적으로 반영하기 어려웠던 이해조의 연재소설은 병원 역시 간접적으로만 제시하는 경향이 강했다. 전대에 존재했던 세계의 억압과 모순은 ≪매일신보≫의 동시대에 대한 인식 내에서는 성립될 수 없었다. 이해조의 연재소설에 나타나는 한성병원이나 자혜의원은 소설의 서사 내부로 편입되지 못한 채 그 주변부에 머무르게 된다. 조중환의 번안소설에 이르면 병원은 중요한 역할을 차지하게 된다. 「장한몽」의 총독부의원은 이수일과 심택의 상봉을 가능하게 한 공간이기도 했지만, 무엇보다도 심순애의 속죄와 갱생을 위한 공간이었다는 점에서 중요한 위치를 점했다. 「비봉담」의 경성감옥병원은 여기서 한 발 더 나아가서 박화순의 질병을 치료하며, 사법체계와의 연계를 바탕으로 그녀의 무죄를 입증하는 데 중요한 역할을 수행한다. 이처럼 조중환의 번안소설에 나타난 병원은 일탈을 겪은 개인이 질병으로 표상되는 속죄를 통해 당대의 질서 내부로 다시 편입될 수 있게 하는 공간으로 제시되었다. Newspaper serial novels from the 1900-1910s feature a variety of elements related to healthcare. Of these, hospitals appear relatively infrequently compared to diseases, doctors, and superstitions. However, the role and meaning of hospitals in these novels are just as suggestive as the other elements. In the New Novels of the 1900s, hospitals were spaces that protected the characters from the chaos and contradictions of their time and provided an opportunity for contradictions and conflicts to be resolved. The reason for the characters to turn to the hospital was injury rather than illness, which was a result of the oppression and contradictions of the outside world. The hospital served as a refuge from this world and also provided an important turning point in the novel. In the early 1910s, Maeilshinbo had to reflect the political demands of the time, which were to emphasize the advancement of the Government-General of Korea's politics. However, Lee Hae-jo's serialized novels, which could not effectively reflect this demand, tended to present the hospital only indirectly. The oppression and contradictions of the world that existed in the previous era could not be established within the contemporary perception of Maeilshinbo. Hansungbyungwon and Jahyeuiwon, which appear in Lee's serialized novels, remain on the periphery of the work's narrative without being incorporated into it. In Cho Joong-hwan's adapted novel, the hospital plays an important role. The Government General Hospital in Janghangmong was a space that enabled the reunion of Lee Soo-il and Shim Taek, but more importantly, it was a space for Shim Soon-ae's atonement and renewal. The Gyeongseong Prison Hospital in Bibongdam goes one step further, treating Park Hwa-soon's illness and playing an important role in proving her innocence based on its connection to the judicial system. Thus, the hospital in Cho Joong-hwan's adapted novel is presented as a space where deviant individuals can be re-integrated into the order of the time through atonement represented by illness.

한국근대소설 속 신경쇠약과 결핵의 인접 관계에 대한 인식의 형성과 구체화-1910년대 신소설과 번안소설을 중심으로-

박성호 고려대학교 한국언어문화학술확산연구소 2022 Journal of Korean Culture Vol.58 No.-

결핵은 감염병의 하나로 근대 도시 환경의 변화와 더불어 급속도로 확산되었다. 이미 19세기에 병원체의 존재가 밝혀졌고, 한국에서도 20세기 초 서구 의학 지식과 더불어 결핵에 대한 지식도 빠르게 유입되었다. 하지만 결핵에 대한 일반의 인식은 쉽게 바뀌지 않았다. 결핵은 여전히 몸의 에너지, 즉 기(氣)가 소모됨에 따라 발생하는 다양한 병증 가운데 하나로 여겨졌다. 병명 역시 결핵보다는 부족증, 소모병 등이 더 폭넓게 통용되었다. 그 대처법도 요양이나 자양강장제 등을 통해 에너지 소모를 최소화하고 부족해진 부분을 보충하는 데 초점을 맞추었다. 이러한 시각은 당대 문학 작품에도 고스란히 반영되었다. 1910년대의 신소설이나 번안소설에서 결핵은 소모병이나 부족증으로 신경쇠약과 그 발병 원인과 증상 등을 공유한다. 그리고 이는 근대 이전부터 소설 속에서 흔히 등장하던 화병과도 맞닿아 있다. 이러한 결핵과 신경쇠약의 인접 양상은 1920년대 이후의 소설에서도 빈번하게 나타나게 된다. Tuberculosis, one of the infectious diseases, has spread rapidly with changes in the modern urban environment. The existence of pathogens was already discovered in the 19th century, and knowledge about tuberculosis was rapidly introduced in Korea along with modern medical knowledge in the early 20th century. However, public perception of tuberculosis did not change easily. Tuberculosis was still considered as one of the various diseases caused by the consumption of energy, or Qi, of the body. As for the name of the disease, phthisis or consumption disease were more widely used than tuberculosis. The treatment also focused on minimizing energy consumption and replenishing the missing parts through recuperation or nourishing tonic. This perspective was reflected in the literary works of the time as well. Tuberculosis is a consumption disease or phthisis in Sin-so-seol(New Novels) or adaptation novels in the 1910s, and shares the causes and symptoms of a nervous breakdown and its onset. And this is also in contact with the Hwa-byung that have appeared frequently in novels since before modern times. The adjoining aspect of tuberculosis and nervous breakdown appears frequently in novels after the 1920s.

질병의 의미를 통한 노년소설 연구 - 김원일의 『슬픈 시간의 기억』을 중심으로 -

김은정 국제어문학회 2018 국제어문 Vol.0 No.77

This study searched the formation process of theme of the novel Memory of Sad Times by Kim Won-il, focusing on the meanings of the diseases, that is, dementia, stroke, renal cancer, and detachment of the retina, from which the narrators of the work suffer. Above all, I payed attention to the fact that the titles of the four individual works, Who am I, I know myself, I am afraid, and I was nonexistent have especial relativeness with the meanings of diseases. So, I considered those titles in a connection with the diseases, and argued that the titles were embodied as the individual themes of each works. These themes are related directly to the diseases of the individual works, and I found out the fact that the meanings of each diseases have intimate connection with the lifestyles of the four narrators of each works, and this relativeness form the meanings of the old-aged novels. The fact that the diseases have thematic sense can be verified through the relativeness with ironies which appear in each works. So, I associated those ironies with of the symptoms of the diseases, and considered the whole theme of the work, Memory of Sad Times from the viewpoint of the irony of life. And I emphasized that such viewpoints can be the important indicators of the research of old-aged novels. 이 연구는 김원일의 슬픈 시간의 기억에 나타나는 네 명의 초점화자가 각각앓고 있는 질병인 ‘치매’, ‘뇌졸중’, ‘신장암’, ‘망막박리’의 의미를 중심으로 각 편의 개별적 주제 및 전체 작품을 관통하는 주제의 형상화 과정을 살펴본 것이다. 본고는 우선 각 편의 제목인 ‘나는 누구인가’, ‘나는 나를 안다’, ‘나는 두려워요’, ‘나는 존재하지 않았다’가 각 질병의 의미와 각별한 연관성을 가지고 있다는 사실에 주목하였다. 이에 따라 각각의 제목을 질병과의 관련성 속에서 논의하여해당 제목이 개별적 주제로 형상화된다는 점을 밝혔다. 이러한 주제는 각 편에 다양하게 나타나는 질병과 유의미하게 연결된다. 즉이 연구는 각각의 질병이 지닌 의미는 각 편에 등장하는 네 명의 초점화자의 삶의 양식과 깊은 관련성이 있으며 그러한 관련성이 노년소설의 의미를 형성한다는 점을 밝혔다. 이 작품에서 질병이 주제적 의의를 지니는 점은 각각의 질병이 각 편에서 다양한 방식으로 다루고 있는 ‘아이러니’와 관련된다는 데서도 확인된다. 따라서이 연구는 작품 속의 ‘아이러니’를 각 질병의 증상과 관련지어 고찰함으로써 슬픈 시간의 기억을 관통하는 전체 주제를 ‘생의 아이러니’라는 맥락에서 파악하였다. 그리고 이러한 관점이 노년소설 연구에서 중요한 지표가 된다는 점을 강조하였다.

Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation

Jung Min Ko,Choong Ho Shin,Sei Won Yang,Hae Il Cheong,Jung han Song 대한의학유전학회 2014 대한의학유전학회지 Vol.11 No.1

Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain α-keto acid dehydrogenase complex. Mutations have been identified in the BCKDHA, BCKDHB, or DBT genes, which encode different subunits of the BCKDH complex. Although encephalopathy and progressive neurodegeneration are its major manifestations, the severity of the disease may range from the severe classic type to milder intermediate variants. We report two Korean siblings with the milder intermediate MSUD who were diagnosed with MSUD by a combination of newborn screening tests using tandem mass spectrometry and family genetic screening for MSUD. At diagnosis, the patients' plasma levels were elevated for leucine, isoleucine, valine, and alloisoleucine, and branched-chain α-keto acids and branched-chain α-hydroxy acids were detected in their urine. BCKDHA, BCKDHB, and DBT analysis was performed, and two novel mutations were identified in BCKDHB. Our patients were thought to have the milder intermediate variant of MSUD, rather than the classic form. Although MSUD is a typical metabolic disease with poor prognosis, better outcomes can be expected if early diagnosis and prompt management are provided, particularly for milder forms of the disease.

IdeIdentification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation

고정민,신충호,양세원,정해일,송정한 대한의학유전학회 2014 대한의학유전학회지 Vol.11 No.1

Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from adefect in branched-chain α-keto acid dehydrogenase complex. Mutations have been identified in the BCKDHA, BCKDHB,or DBT genes, which encode different subunits of the BCKDH complex. Although encephalopathy and progressive neurodegenerationare its major manifestations, the severity of the disease may range from the severe classic type to milder intermediatevariants. We report two Korean siblings with the milder intermediate MSUD who were diagnosed with MSUD bya combination of newborn screening tests using tandem mass spectrometry and family genetic screening for MSUD. Atdiagnosis, the patients’ plasma levels were elevated for leucine, isoleucine, valine, and alloisoleucine, and branched-chainα-keto acids and branched-chain α-hydroxy acids were detected in their urine. BCKDHA, BCKDHB, and DBT analysis wasperformed, and two novel mutations were identified in BCKDHB. Our patients were thought to have the milder intermediatevariant of MSUD, rather than the classic form. Although MSUD is a typical metabolic disease with poor prognosis, betteroutcomes can be expected if early diagnosis and prompt management are provided, particularly for milder forms of the disease.

Identification of Two Novel BCKDHB Mutations in Korean Siblings with Maple Syrup Urine Disease Showing Mild Clinical Presentation

Ko, Jung Min,Shin, Choong Ho,Yang, Sei Won,Cheong, Hae Il,Song, Junghan Korean Society of Medical Genetics and Genomics 2014 대한의학유전학회지 Vol.11 No.1

Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain ${\alpha}$-keto acid dehydrogenase complex. Mutations have been identified in the BCKDHA, BCKDHB, or DBT genes, which encode different subunits of the BCKDH complex. Although encephalopathy and progressive neurodegeneration are its major manifestations, the severity of the disease may range from the severe classic type to milder intermediate variants. We report two Korean siblings with the milder intermediate MSUD who were diagnosed with MSUD by a combination of newborn screening tests using tandem mass spectrometry and family genetic screening for MSUD. At diagnosis, the patients' plasma levels were elevated for leucine, isoleucine, valine, and alloisoleucine, and branched-chain ${\alpha}$-keto acids and branched-chain ${\alpha}$-hydroxy acids were detected in their urine. BCKDHA, BCKDHB, and DBT analysis was performed, and two novel mutations were identified in BCKDHB. Our patients were thought to have the milder intermediate variant of MSUD, rather than the classic form. Although MSUD is a typical metabolic disease with poor prognosis, better outcomes can be expected if early diagnosis and prompt management are provided, particularly for milder forms of the disease.