• Title/Summary/Keyword: rare metabolic disease

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Clinical Phenotypes and Dietary Management of Hepatic Glycogen Storage Disease Type 0 (간 0형 당원축적병의 임상 표현형과 식사관리)

  • Young-Lim Shin
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.23 no.2
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    • pp.8-14
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    • 2023
  • The hepatic glycogen storage disease type 0 (GSD type 0) is an autosomal recessive disorder caused by a deficiency of hepatic glycogen synthase encoded by the glycogen synthase 2 (GYS2) gene, leading to abnormal synthesis glycogen. The clinical findings of GSD type 0 are hyperketotic hypoglycemia at fasting state and accompanying postprandial hyperglycemia and hyperlactatemia. GSD type 0 has only been reported in a very small number so far, and the diagnosis is likely to be missed because symptoms are mild, severe hypoglycemia is rare or asymptomatic, or symptoms gradually disappear with age. Essential management strategies include feeding high-protein meals to stimulate gluconeogenesis, frequent meals to prevent hypoglycemia during the day and feeding complex carbohydrates such as uncooked cornstarch to slowly release glucose during nignt. GSD type 0 has a good prognosis, with appropriate treatment, normal growth can be achieved and no complications occur. Significant hypoglycemia occurs less common in adulthood, but ongoing dietary management may be necessary.

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A Patient with Propionic Acidemia with a Novel mutation who was Successfully Managed by Home Care-Based Fluid Therapy (가정 간호를 통한 수액 치료로 성공적으로 관리된 새로운 변이를 가진 프로피오닌산혈증 1례)

  • Yang, Aram;Nam, Soon Young;Kim, Jinsup;Kim, Hyun-young;Park, Hyung-Doo;Jin, Dong-Kyu;Cho, Sung Yoon
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.16 no.1
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    • pp.52-56
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    • 2016
  • Propionic acidemia (PA) is a rare autosomal recessive metabolic disease caused by the deficiency of propionyl-CoA carboxylase (PCC). PA affects the catabolism of branched chain amino acid and oddchain fatty acid then results in accumulation of propionic acid and other metabolites in plasma and urine. Catabolic stress such as infection, illness or any stress can precipitate cause acute metabolic decompensation, especially in the first years of life. Acute metabolic decompensation commonly calls for emergency treatment or admission and if the patient is in a serious condition, it can lead to coma or death. But frequent admissions or visiting the emergency room are much burden to the patients and their kins. And we experienced the propionic academia with a confirmed novel mutation and the patient suffered from frequent admission and visiting the emergency room. So, we tried the regular home carebased fluid therapy after securing a central venous line. Finally, we succeeded in preventing frequent admissions resulted from acute metabolic decompensation and could contribute to relieving the burden to the patient and their family.

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Mucopolysaccharidoses in Taiwan

  • Lin, Hsiang-Yu;Chuang, Chih-Kuang;Lin, Shuan-Pei
    • Journal of mucopolysaccharidosis and rare diseases
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    • v.4 no.1
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    • pp.14-20
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    • 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.

A Case of Glycogen Storage Disease with Hypertrophic Cardiomyopathy (비대심장근육병증을 동반한 당원축적병 1 예)

  • Kim, Dong-Hee;Kang, Sang-Wook;Park, Won-Jong;Jang, Kyoung-Ae;Choi, Joon-Hyuk;Kim, Woong;Lee, Sang-Hee;Hong, Geu-Ru
    • Journal of Yeungnam Medical Science
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    • v.23 no.2
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    • pp.252-257
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    • 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.

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Cardiomyopathies in children

  • Hong, Young Mi
    • Clinical and Experimental Pediatrics
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    • v.56 no.2
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    • pp.52-59
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    • 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.

A Case of Mitochondrial Respiratory Chain Defect with Progressive Bilateral Cararacts (진행성 양측 백내장이 동반된 미토콘드리아 질환 1례)

  • Lee, Soonie;Lee, Young-Mock
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.18 no.3
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    • pp.95-98
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    • 2018
  • A striking feature of mitochondrial disorders is the vast heterogeneity in their clinical symptoms that ranges from a single organ to severe multisystem involvement. Though a variety of ocular symptoms such as ptosis, pigmentary retinal degeneration, external ophthalmoplegia, and optic nerve atrophy can occur in association with mitochondrial cytopathies, progressive bilateral cataracts are rare among their ocular findings. A 5-year-old girl with no previous medical history came to our hospital presenting symptoms of seizure. She started showing progressive developmental regression, increased seizure frequency, hypotonia, general weakness, dysphagia and decreased vision. Lactic acidosis was noted in metabolic screening test and we confirmed mitochondrial respiratory chain complex I defect in spectrophotometric enzyme assay using the muscle tissue. Progressive bilateral cataracts then developed and were fully evident at the age of 7. She underwent cataract extraction with posterior chamber lens implantation. We are reporting a case of mitochondrial respiratory chain defect with multiorgan involvements including bilateral progressive cataract, an uncommon ocular manifestation. Ophthalmologic evaluation is highly recommended not to overlook the possible ocular manifestations in mitochondrial disorders.

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Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment

  • Jae Hun Yun;Yong Hee Hong;Go Hun Seo;Young-Lim Shin
    • Journal of Genetic Medicine
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    • v.19 no.2
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    • pp.94-99
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    • 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.

CASE REPORT OF NECROTIZING FASCITIS ON THE CERVICOFACIAL AREA (경부에 발생한 의인성 괴사성 근막염의 증례)

  • Moon, Cheol;Lee, Dong-Keun;Sung, Gil-Hyun;Park, Kyung-Ok;Lee, Jae-Eun;Kwon, Hyuk-Do
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.16 no.1
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    • pp.104-111
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    • 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.

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A Korean patient with Fanconi-Bickel Syndrome Presenting with Transient Neonatal Diabetes Mellitus and Galactosemia : Identification of a Novel Mutation in the GLUT2 Gene

  • Yoo, Han-Wook;Seo, Eul-Ju;Kim, Gu-Hwan
    • Journal of The Korean Society of Inherited Metabolic disease
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    • v.1 no.1
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    • pp.23-27
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    • 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).

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A Study on the Dietary Behaviors and Nutritional Statuses of Children with Galactosemia in Korea (국내 갈락토스혈증 아동의 식행동 및 영양섭취 실태에 관한 연구)

  • Seo, Hye Ji;Jeong, Yeseung;Kim, Yuri;Oh, Jieun
    • 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.