• 대한유전성대사질환학회지
• /
• 제23권2호
• /
• pp.8-14
• /
• 2023

간 당원축적병 0형은 glycogen synthase 2 유전자에 부호화되어 있는 간 당원 합성효소의 결핍으로 비정상적으로 당원 생성이 되는 상염색체 열성 유전 질환이다. 당원축적병 0형의 임상 양상은 공복시에 고케톤혈증 저혈당증을 나타내고 식사후 고혈당과 고젖산혈증을 보인다. 당원축적병 0형은 현재까지 적은 수만 보고되었는데 증상이 경하거나 심한 저혈당이 드물고 또는 무증상이거나 나이가 듦에 따라 점차 증상이 사라지는 양상을 보이기 때문에 진단을 놓치는 경우가 있을 것으로 생각된다. 필수적 치료 전략은 포도당신생성을 자극하기 위해 고단백 식사, 낮동안 저혈당을 방지하기 위해서 잦은 식사 횟수, 밤 동안 천천히 포도당을 방출하기 위해 생옥수수전분가루 같은 복합 탄수화물을 먹는 것이다. 당원축적병 0형은 예후는 좋고 적절한 치료를 하면 정상적으로 성장하며 합병증도 발생하지 않는다. 성인이 될수록 심한 저혈당은 보이지 않게 되지만 지속적인 식사 관리는 필요하다.

• 대한유전성대사질환학회지
• /
• 제16권1호
• /
• pp.52-56
• /
• 2016

프로피오닌산혈증은 propionyl-CoA carboxylase(PCC)의 결핍으로 인한 드문 상염색체 열성 유전 대사 질환이다. 이는 분지 아미노산 대사 장애로 혈장과 소변에서 프로피오닌산과 다른 대사 산물들의 축적되게 된다. 감염, 질병 혹은 스트레스 등 이화작용을 유발하는 스트레스적인 상황은 빈번하게 응급 혹은 입원 치료가 필요하며 심각한 경우에는 환자가 혼수나 사망에 이를 수도 있다. 하지만 이런 잦은 입원과 응급실 방문은 환자와 가족들에게 일상생활을 힘들게 하는 등 많은 스트레스가 된다. 이에 저자들은 프로피오닌산혈증 환자에게 중심정맥관을 유치하고 가정 간호를 통해 계획적으로 예방적인 수액 치료를 유지하여 급성 대사 위기로 인한 잦은 입원을 예방하였고 환자와 가족들의 부담을 줄이는데 기여할 수 있었다. 또한 이 환자에게서 확인된 돌연변이가 이전에 보고된 바 없는 새로운 돌연변이로 확인되어 이를 같이 보고하는 바다.

• Journal of mucopolysaccharidosis and rare diseases
• /
• 제4권1호
• /
• pp.14-20
• /
• 2018

Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders caused by specific lysosomal enzyme deficiencies leading to the sequential degradation of glycosaminoglycans, causing substrate accumulation in various cells and tissues and progressive multiple organ dysfunction. The rare disease medical care team at Mackay Memorial Hospital in Taiwan has been dedicated to the study of MPSs for more than 20 years. Since 1999, more than 50 academic papers focusing on MPSs have been published in international medical journals. Topics of research include the following items regarding MPSs: incidence, natural history, clinical manifestations, gene mutation characteristics, cardiac function, bone mineral density, sleep studies, pulmonary function tests, hearing assessments, percutaneous endoscopic gastrostomy, anesthetic experience, imaging analysis, special biochemical tests, laboratory diagnostics, global expert consensus conferences, prenatal diagnosis, new drug clinical trials, newborn screening, and treatment outcomes. Of these published academic research papers, more than half were cross-domain, cross-industry, and international studies with results in cooperation with experts from European, American and other Asian countries. A cross-specialty collaboration platform was established based on high-risk population screening criteria with the acronym "BECARE" (Bone and joints, Eyes, Cardiac and central nervous system, Abdomen and appearance, Respiratory system, and Ear, nose, and throat involvement). Through this platform, orthopedic surgeons, rheumatologists, ophthalmologists, cardiologists, rehabilitation physicians, gastroenterologists, otorhinolaryngologists, and medical geneticists have been educated with regards to awareness of suspected cases of MPSs patients to allow for a further confirmative diagnosis of MPSs. Because of the progressive nature of the disease, an early diagnosis and early multidisciplinary therapeutic interventions including surgery, rehabilitation programs, symptom-based treatments, hematopoietic stem cell transplantation, and enzyme replacement therapy, are very important.

• Journal of Yeungnam Medical Science
• /
• 제23권2호
• /
• pp.252-257
• /
• 2006

Glycogen storage diseases are a heterogeneous group of metabolic disorder affecting multiple organ system: liver, skeletal muscle, heart and brain. Clinical features include: short status, hepatomegaly, hypoglycemia, dyslipidemia and rare involvement of the myocardium except in the case of type III, glycogen storage diseases with hypertrophic cardiomyopathy in adult, which is extremely rare. We treated a case of hypertrophic cardiomyopathy with hepatomegaly that was unknown etiology. The patient was diagnosed as having glycogen storage disease. This 46-year old women was transferred with dyspnea on exertion and abnormal LFTs. She was diagnosed with hypertrophic cardiomyopathy by echocardiography but there was no specific cause for hypertrophic cardiomyopathy. A liver biopsy was performed. The result showed glycogen storage disease possible type III, IV or IX. In conclusion, patients with hypertrophic cardiomyopathy of unknown etiology and abnormal LFTs should be evaluated for glycogen storage disease.

• Clinical and Experimental Pediatrics
• /
• 제56권2호
• /
• pp.52-59
• /
• 2013

Cardiomyopathy (CMP) is a heterogeneous disease caused by a functional abnormality of the cardiac muscle. CMP is of 2 major types, dilated and hypertrophic, and is further classified as either primary or secondary. Secondary CMP is caused by extrinsic factors, including infection, ischemia, hypertension, and metabolic disorders. Primary CMP is diagnosed when the extrinsic factors of secondary CMP are absent. Furthermore, the World Health Organization, American Heart Association, and European Cardiology Association have different systems for clinically classifying primary CMP. Primary CMP is rare and associated with a family history of the disease, implying that genetic factors might affect its incidence. In addition, the incidence of CMP varies widely according to patient ethnicity. Genetic testing plays an important role in the care of patients with CMP and their families because it confirms diagnosis, determines the appropriate care for the patient, and possibly affects patient prognosis. The diagnosis and genetic identification of CMP in patients' families allow the possibility to identify novel genes that may lead to new treatments. This review focuses on the epidemiology, pathophysiology, diagnosis, and treatment of CMP, with the aim of providing pediatricians with insights that may be helpful in the early identification and management of idiopathic CMP in children.

• 대한유전성대사질환학회지
• /
• 제18권3호
• /
• pp.95-98
• /
• 2018

미토콘드리아 질환은 단일 장기에서부터 여러 장기에 걸쳐 침범할 수 있다는 임상 증상의 광범위한 이질성이 특징이다. 안검하수, 색소 망막 퇴화, 외안근 마미, 시신경 위축 등과 같은 다양한 안구 증상이 미토콘드리아 질환에서 함께 나타날 수 있지만, 진행성 양안 백내장은 미토콘드리아 질환의 안과적 증상에서 매우 드물다. 저자들은 미토콘드리아 호흡 연쇄 복합체 결핍 환자에서 흔치 않은 안구 발현 현상인 진행성 양안 백내장 침범 사례를 경험하였기에 보고하는 바이다.

• Journal of Genetic Medicine
• /
• 제19권2호
• /
• pp.94-99
• /
• 2022

Lesch-Nyhan disease (LND) is a rare X-linked recessive inherited purine metabolic disorder that accompanies neurodevelopmental problems. Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant inherited genetic disorder characterized by tumors in various systems. Some children with NF1 also accompanies neurodevelopmental problems. Here, we describe a 5-year-old boy with a maternally inherited pathogenic variant in NF1 and hypoxanthine-guanine phosphoribosyltransferase (HPRT). He was referred for severe neurodevelopmental impairment and hyperuricemia. His mother was diagnosed with NF1 and the patient was also suspected of having NF1 because of cafe au lait macules. He had dystonia, rigidity, cognitive deficit, and speech/language impairment. Serum and urine uric acid concentrations were elevated. He had more severe neurodevelopmental delay than patients with only NF1, so his clinical symptoms could not be fully understood by the disease alone. To find the cause of his neurologic symptoms and hyperuricemia, the patient and his mother underwent a whole-exome sequencing test. As a result, the pathogenic variant c.151C>T (p.Arg51Ter) in HPRT1 was identified as hemizygote in the patient and heterozygote in his mother. The pathogenic variant c.7682C>G (p.Ser2561Ter) in NF-1 was identified as heterozygotes in both of them. Although the clinical symptoms of both diseases were overlapping and complicated, genetic testing was helpful for accurate diagnosis and treatment. Therefore, we suggest to consider preemptive genetic evaluation if there are symptoms not sufficiently explained by known existing diseases. And it is considered valuable to review this rare case to understand the clinical course and possible synergic effects of these diseases.

• Maxillofacial Plastic and Reconstructive Surgery
• /
• 제16권1호
• /
• pp.104-111
• /
• 1994

Necrotizing fascitis is a severe soft tissue infection characterized by extensive necrosis of superficial fascia, suppurative fascitis, vascular thrombosis, widespread undermining of surrounding tissues. Associated systemic problems are widespread undermining of surrounding tissues, Associated systemic problems are common, with chronic alcoholism and diabetes being most prominent. Most commonly this disease presents in the extremities, trunk, and perineum. Necrotizing fascitis of dental origing is rare and its fulminating clinical course is not well documented in the dental literature. The present report is a case of necrotizing fascitis following vital extirpation of the pulp in a patient with uncontrolled diabetes mellitus and liver cirrhosis. Originally throught to be caused by hemolytic streptococcus organism or stphylococcus aureus, advances in anaerobic culturing have shown it to be a synergistic bacterial infection involving aerobic and ovligate anaerobes. it is relatively rare in relatively rare in haea and neck regions. If it was not diagnosed and treated in early stages, necrotizing fascitis can be potentially fetal, with a mortality rate approaching 40%. It's treatment requires early recognition, prompt and aggressive surgical debriment and proper supportive cares, such as, antibiotic therapy, fluid resuscitation and correction of metabolic and electrolyte disorder, resolving of the underlying systemic disease. Recently, we experienced two cases of necrotizing fascitis in cervicofacial region, One patient was 60 years old male with uncontrolled Diabetes Mellitus and other patient was 48 years old with steroid therapy during 30 years. Local surgical wound healing was successful but, patients were died after admission, because of lung abscess, gastrointestinal bleeding, septic shock and respiration hold.

• 대한유전성대사질환학회지
• /
• 제1권1호
• /
• pp.23-27
• /
• 2001

Fanconi-Bickel Syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism recently demonstrated to be caused by mutations in the GLUT 2 gene for the glucose transporter protein 2 expressed in liver, pancreas, intestine, and kidney. This disease is characterized by hepatorenal glycogen accumulation, both fasting hypoglycemia as well as postprandial hyperglycemia and hyperglactosemia, and generalized proximal renal tubular dysfunctions. We report the first Korean patient with FBS diagnosed based on clinical manifestations and identification of a novel mutation in the GLUT 2 gene. She was initially diagnosed having a neonatal diabetes mellitus due to hyperglycemia and glycosuria at 3 days after birth. In addition, newborn screening for galactosemia revealed hypergalactosemia. Thereafter, she has been managed with lactose free milk, insulin therapy. However, she failed to grow and her liver has been progressively enlarging. Her liver functions were progressively deteriorated with increased prothrombin time. Liver biopsy done at age 9 months indicated micronodular cirrhosis with marked fatty changes. She succubmed to hepatic failiure with pneumonia at 10 months of age. Laboratory tests indicated she had generalized proximal renal tubular dysfuctions; renal tubular acidosis, hypophosphatemic rickets, and generalized aminoaciduria. Given aforementioned findings, the diagnosis of FBS was appreciated at age of 2 months. The DNA sequencing analysis of the GLUT 2 gene using her genomic DNA showed a novel mutation at 5th codon; Lysine5 Stop (K5X).

• 한국식생활문화학회지
• /
• 제37권4호
• /
• pp.363-375
• /
• 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.