• 제목/요약/키워드: rare metabolic disease

검색결과 96건 처리시간 0.014초

희귀유전대사질환 아동 어머니의 양육 스트레스와 죄책감 (Parenting Stress and Guilty Feeling for Mothers Having Children with Rare Genetic Metabolic Diseases)

  • 권은경;최미혜;김수강
    • 임상간호연구
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    • 제14권3호
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    • pp.153-163
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    • 2008
  • Purpose: The purpose of this research, using descriptive correlation design was to identify the extent to which the mothers having children with rare genetic metabolic diseases(MPS, PWS) have parenting stress and guilt feeling. Method: This study used PSI /SF(Abidin, 1995) and Guilt Index as devised herein. From 156 mothers, data were collected from February to July 2006, using self-administered questionnaires. This study received the approval from IRB at S Hospital (IRB File No: 2006-02-014). Data were analyzed with descriptive statistics, t-test, ANOVA, and correlation. Results: Mothers felt very high level of parenting stress and sense of guilt. Parenting stress was related positively to guilt feeling. Conclusion: These findings could help understand the families of children with rare genetic metabolic diseases and those provide basic information in developing effective counseling and education programs for relief of parenting stress and guilt feeling. This study would be significant in the fact that it is the first research, targeting on the families of children with rare genetic metabolic diseases in Korea.

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유전성 대사질환의 임상증상과 진단 (Diagnosis of Inherited Metabolic Disorders Based on Their Diverse Clinical Features and laboratory Tests)

  • 유한욱
    • 대한유전성대사질환학회지
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    • 제13권1호
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    • pp.1-19
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    • 2013
  • Inherited metabolic disorders are individually rare but as a whole, they are nor rare. Since Archibald Garrod introduced a concept of "inborn error of metabolism" or "chemical individuality", more than 600 diseases are currently known, affecting approximately one in 500 newborns cumulatively. They frequently manifest with acute, life-threatening crisis that requires immediate specific intervention or they present with insidious diverse symptoms and signs involving multiple visceral organs or tissues as well as central nervous system, hampering a correct diagnosis. In addition, many pediatricians are not familiar with all diagnostic and therapeutic strategies for diverse inherited metabolic disorders. However, the prognosis of affected children are heavily dependent on rapid and effective treatment. In this lecture, practical guidelines for the specific diagnosis based on diverse clinical features of inherited metabolic disorders will be described. Many sophisticated laboratory tests are available for the confirmatory diagnosis of each disease, which is challenging to general pediatricians with respect to knowledge about biochemical metabolite assay test, enzymatic test and DNA diagnostic tests. Sample collections, indications, methods and interpretation of results in varying laboratory tests will be listed as well.

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유전성 대사질환의 치료 및 관리 (Treatment and management of patients with inherited metabolic diseases)

  • 이진성
    • Clinical and Experimental Pediatrics
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    • 제49권11호
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    • pp.1152-1157
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    • 2006
  • Inherited metabolic disease is rare disorders that show symptoms mainly in pediatric age and early treatment is important for preventing complications of the disease. Recent development in molecular and biochemical techniques help clinicians with proper diagnosis of patients, however, many of the disease still remain lack of effective therapeutic strategies. Better understanding on biochemical and molecular basis of pathogenesis of the disease combined with advanced medical care would provide new sight on the disease that can also improve the quality of life and long-term prognosis of patients. Traditionally, there are several modalities in the treatment of metabolic diseases depend on the biochemical basis of the disease such as diet restriction, removing or blocking the production of toxic metabolites, and stimulating residual enzyme activity. The inherited metabolic disease is not familiar for many clinicians because the diagnosis is troublesome, treatment is complicated and prognosis may not as good as expected in other diseases. Recently, new therapeutic regimens have been introduced that can significantly improve the medical care of patients with metabolic disease. Enzyme replacement therapy has showed promising efficacy for lysosomal storage disease, bone marrow transplantation is effective in some disease and gene therapy has been trying for different diseases. The new trials for treatment of the disease will give us promising insight on the disease and most clinicians should have more interest in medical progress of the metabolic disease.

유아돌연사증후군과 유전성대사질환 (Sudden Infant Death Syndrome and Inborn Metabolic Disorders)

  • 윤혜란
    • 대한유전성대사질환학회지
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    • 제13권2호
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    • pp.75-80
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    • 2013
  • Specific genetic conditions may lead to sudden unexpected deaths in infancy, such as inborn errors of fatty acid oxidation and genetic disorders of cardiac ion channels. The disease may present dramatically with severe hypoketotic hypoglycemia, Reye syndrome or sudden death, typically with a peak of frequency around 3-6 month, whilst neonatal sudden death is quite rare. When undetected, approximately 20-25% of infants will die or suffer permanent neurologic impairment as a consequence of the first acute metabolic decompensation. Meanwhile, the advent of newborn screening for metabolic diseases has revealed populations of patients with disorders of fatty acid oxidation (FAO), the most frequent of which is medium chain acyl-CoA dehydrogenase (MCAD) deficiency. Without this screening, affected individuals would likely succumb to sudden infant death syndrome (SIDS). Here we describe an overview of sudden infant death syndrome and inherited metabolic disorder.

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글루타르산뇨증 1형: 신생아 대사이상 검사 시행 이후 변화를 중심으로 (Glutaric Aciduria Type I: The Newborn Screening Program Changes the Outcomes of the Disease)

  • 김수진
    • 대한유전성대사질환학회지
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    • 제22권1호
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    • pp.9-14
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    • 2022
  • Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase. Infantile-onset GA1 is the most common form characterized by striatal injury and progressive movement disorder, and it is often triggered by an acute encephalopathic crisis within the first three years of life. Once this crisis occurs, there is a high likelihood for ineffective or limited conventional interventions, neurological disorders, or even death. Therefore, early diagnosis and immediate preventive management, such as dietary therapy, is essential. In the past decades, newborn screening (NBS) by tandem mass spectrometry for GA1 has been largely introduced in many countries including Korea, and it has led to improvements in the neurological outcomes of patients with GA1. In this review, the clinical symptoms, natural histories, and outcomes before and after the introduction of NBS in patients are discussed.

유전성대사질환에서 눈이상 (Inherited Metabolic Disorders Involving the Eye)

  • 정재호
    • 대한유전성대사질환학회지
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    • 제22권2호
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    • pp.37-45
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    • 2022
  • Inherited metabolic disorders (IMD) are a large group of rare disorders affecting normal biochemical pathways. The ophthalmic involvement can be very varied affecting any part of the eye, including abnormalities of cornea, lens dislocation and cataracts, retina and the optic nerve, and extraocular muscles. Eye disorders can be initial symptoms of some IMD and can be clue for diagnosis of IMD. However, eye disorders can evolve later in the natural history of an already diagnosed metabolic disorder. Awareness of IMDs is important to facilitate early diagnosis and in some cases instigate early treatment if a patient presents with eye involvement suggestive of a metabolic disorder. Ophthalmological interventions are also an important component of the multisystem holistic approach to treating patients with metabolic disorders.

Glutaric Aciduria Type I: Overview

  • Kim, Su Jin
    • Journal of mucopolysaccharidosis and rare diseases
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    • 제5권1호
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    • pp.8-11
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    • 2021
  • Glutaric aciduria type 1 (GA1; OMIM #231670) is a rare autosomal recessive-inherited neurometabolic disorder caused by the deficiency of glutaryl-CoA dehydrogenase (GCDH), which is encoded by the GCDH gene. It results in the accumulation of glutaric acid (GA), 3-hydroxyglutaric acid (3-OH-GA), glutaconic acid, and glutarylcarnitine (C5DC). These metabolites are considered to damage the striatum through an excitotoxic mechanism. The treatments of GA1 known to date are metabolic maintenance treatment based on a low-lysine diet and emergency treatment during acute illness. However, treatment after the onset of neurological symptoms has limited effectiveness and is associated with poor outcomes, and the effect of treatment and disease course after treatment are not good. After the implementation of newborn screening, the incidence of acute encephalopathic crisis fell to 10%-20% with early diagnosis, preventative dietary management, and aggressive medical intervention during acute episodes. Recently, several cohort studies have been published on the natural course and treatment of GA1 patients. This mini review will cover the clinical symptoms, natural history, and treatment of GA1 through a literature review.

피부계 이상을 동반하는 선천성대사질환 (Congenital Metabolic Disorders with Cutaneous Changes)

  • 이상은
    • 대한유전성대사질환학회지
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    • 제22권2호
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    • pp.53-57
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    • 2022
  • 다양한 아미노산 및 지질 대사 질환에서 피부와 모발의 변화가 관찰된다. 탈모증이 관찰되는 경우 장병성 선단피부염(아연 대사 장애), 비오티니다아제 결핍증 (비타민 B), 다발성 카르복실라제 결핍증, acrodermatitis acidemica 등 아미노산 및 비타민 대사 결함을 의심해볼 수 있다. 또한 부서지기 쉬운 모발이 관찰되는 경우 아르기니노숙신산뇨증 또는 시트룰린혈증 및 점액다당증을 의심해볼 수 있다. 건조하고 두꺼워진 인설을 가진 피부 또는 비늘증은 중성지질 축적 질환, 지방산 대사 장애, 콜레스테롤 합성 및 대사 장애와 관련하여 나타날 수 있다. 수포성 병변은 장병성 선단피부염, 비오티니다아제 결핍증, 홀로카르복실라제 합성효소 결핍증, acrodermatitis acidemica 등에서 나타날 수 있다.

발달의 퇴행을 보여 진단된 제2형 GM1 gangliosidosis 1례 (Type 2 GM1 Gangliosidosis Presented with Developmental Regression: A Case Report)

  • 고정민;조태준;채종희
    • 대한유전성대사질환학회지
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    • 제14권2호
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    • pp.182-185
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    • 2014
  • GM1 gangliosidosis is a rare autosomal recessively inherited metabolic disease due to deficiency of ${\beta}$-galactosidase caused by mutations in the GLB1 gene. There have been three clinical subgroups in GM1 gangliosidosis, however it is difficult to differentiate because there is considerable overlap between classical phenotypes and clinical and imaging findings among the subgroups. Here, we report a Korean girl with type 2 GM1 gangliosidosis, who showed dysostosis multiplex and progressive neurological deterioration. Developmental regression was first noted at the age of 9 months, and she was diagnosed as GM1 gangliosidosis by ${\beta}$-galactosidase enzyme analysis and GLB1 mutation analysis at the age of 16 months.

한국인 스미스-렘리-오피츠 증후군 환자의 임상 양상 및 유전자형: 새로운 증례 보고 및 문헌 고찰 (Clinical and Molecular Genetic Characteristics of Korean Patients with Smith-Lemli-Opitz Syndrome: A Report of New Patients with a Literature Review)

  • 고정민
    • 대한유전성대사질환학회지
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    • 제14권1호
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    • pp.48-53
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    • 2014
  • Smith-Lemli-Opitz syndrome (SLO) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.