• 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.

• 대한유전성대사질환학회지
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• 제5권1호
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• pp.88-93
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• 2005

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제24권6호
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• pp.518-527
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• 2021

Purpose: The incidence of hepatic steatosis among children has been increasing; however, data distinguishing simple steatosis from a more complex disorder are lacking. Methods: This study identified the etiologies resulting in hepatic steatosis through a retrospective review of pediatric liver biopsies performed in the last 10 years. A total of 158 patients with hepatic steatosis proven by histopathological evaluation were enrolled in the study, and baseline demographic features, anthropometric measurements, physical examination findings, laboratory data, ultrasonographic findings, and liver histopathologies were noted. Results: The two most common diagnoses were inborn errors of metabolism (IEM) (52.5%) and nonalcoholic fatty liver disease/steatohepatitis (NAFLD/NASH) (29.7%). The three most common diseases in the IEM group were glycogen storage disorders, Wilson's disease, and mitochondrial disease. The rates of consanguineous marriage (75.6%; odds ratio [OR], 26.040) and positive family history (26.5%; OR, 8.115) were significantly higher (p=0.002, p<0.001, respectively) in the IEM group than those in the NAFLD/NASH group. Younger age (p=0.001), normal anthropometric measurements (p=0.03), increased aspartate aminotransferase levels (p<0.001), triglyceride levels (p=0.001), and cholestatic biochemical parameters with disrupted liver function tests, as well as severe liver destruction of hepatic architecture, cholestasis, fibrosis, and nodule formation, were also common in the IEM group. Conclusion: Parents with consanguinity and positive family history, together with clinical and biochemical findings, may provide a high index of suspicion for IEM to distinguish primary steatosis from the consequence of a more complex disorder.

• 대한유전성대사질환학회지
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• 제14권1호
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• pp.19-28
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• 2014

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제23권5호
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• pp.411-422
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• 2020

With the increasing number of children with inflammatory bowel disease (IBD), very early-onset IBD (VEO-IBD), defined as IBD that is diagnosed or that develops before 6 years of age, has become a field of innovation among pediatric gastroenterologists. Advances in genetic testing have enabled the diagnosis of IBD caused by gene mutations, also known as monogenic or Mendelian disorder-associated IBD (MD-IBD), with approximately 60 causative genes reported to date. The diagnosis of VEO-IBD requires endoscopic and histological evaluations. However, satisfactory small bowel imaging studies may not be feasible in this small population. Both genetic and immunological approaches are necessary for the diagnosis of MD-IBD, which can differ among countries according to the available resources. As a result of the use of targeted gene panels covered by the national health insurance and the nationwide research project investigating inborn errors of immunity, an efficient approach for the diagnosis of MD-IBD has been developed in Japan. Proper management of VEO-IBD by pediatric gastroenterologists constitutes a challenge. Some MD-IBDs can be curable by allogenic hematopoietic stem cell transplantation. With an understanding of the affected gene functions, targeted therapies are being developed. Social and psychological support systems for both children and their families should also be provided to improve their quality of life. Multidisciplinary team care would contribute to early diagnosis, proper therapeutic interventions, and improved quality of life in patients and their families.

• Clinical and Experimental Pediatrics
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• 제58권4호
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• pp.117-122
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• 2015

Global developmental delay (GDD) is a relatively common early-onset chronic neurological condition, which may have prenatal, perinatal, postnatal, or undetermined causes. Family history, physical and neurological examinations, and detailed history of environmental risk factors might suggest a specific disease. However, diagnostic laboratory tests, brain imaging, and other evidence-based evaluations are necessary in most cases to elucidate the causes. Diagnosis of GDD has recently improved because of remarkable advances in genetic technology, but this is an exhaustive and expensive evaluation that may not lead to therapeutic benefits in the majority of GDD patients. Inborn metabolic errors are one of the main targets for the treatment of GDD, although only a small proportion of GDD patients have this type of error. Nevertheless, diagnosis is often challenging because the phenotypes of many genetic or metabolic diseases often overlap, and their clinical spectra are much broader than currently known. Appropriate and cost-effective strategies including up-to-date information for the early identification of the "treatable" causes of GDD are needed for the development of well-timed therapeutic applications with the potential to improve neurodevelopmental outcomes.

• 대한유전성대사질환학회지
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• 제6권1호
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• pp.24-31
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• 2006

Purpose : The Ministry of Health and Social Affairs adopted newborn screening for the low-income families in 1991 and expanded in 1997 to cover all newborns. At the beginning of the program 6 diseases were selected for screening but the number of screening items had been reduced to two (congenital hypothyroidism and phenylketonuria) from the year 1995. Now, the government program has a fifteen year history. The purpose of this study was to analyze results of neonatal screening tests and prevalence at birth of phenylketonuria and congenital hypothyroidism in Korea. Methods : The results of neonatal screening tests were collected from public health centers during 15 years from 1991 to 2005. These data were analyzed for number of tested newborns and prevalence at birth of the inborn errors of metabolism. Results : Neonatal screening test for inborn error of metabolism was performed for 3,707,773 newborns for 15 years. Among newborns who were screened 718 congenital hypothyroidisms and 86 phenylketonurias were detected, and these presented an prevalence at bith of congenital hypothyroidism 1/5,164 and that of phenylketonuria 1/43,114. The total prevalence of two diseases was 1/4,612. Conclusion : National screening program should be expanded to include all items of screening tests for whole newborns and established correct prevalence of other inherited metabolic diseases in Korea.

• 대한유전성대사질환학회지
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• 제14권2호
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• pp.123-134
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• 2014

유전성대사장애질환의 진단과 치료는 최근들어 비약적인 발전을 하고 있으며, 치료가 불가능하여 대증적인 치료만이 가능하였던 많은 병들이 치료가 가능하 여지고 있다. 이러한 사실은 비가역적인 후유증이 생기기전의 조기진단의 중요성을 더 크게 한다. 유전성 대사장애질환은 현재 밝혀진 것만 하더라도 수백 가지의 질병에 이르며, 가까운 미래에 그 수는 수천에 이를 것으로 전망되고 있다. 이와 같은 질병의 다양성과 그 증상 및 임상적발현의 다양성은 임상의들이 정확한 진단에 이르는데 크나큰 장애요인이 되고 있다. 신생아기와 영아기 초기의 임상적인 발현은 비특이적이지만 나이가 들어가면서 다양한 특징적인 증상을 나타내게 된다. 같은 질병일지라도 잔류효소농도(residual enzyme activity)가 거의 없는 경우에는 신생아기 또는 영아기 등 이른시기에 증상이 나타나지만 잔류효소농도가 어느 정도 남아 있는 경우에는 늦게 소아기 또는 성인기에 증상을 나타내며, 유기산이나 지방산대사이상의 경우에는 이화작용이 증가되는 스트레스상태에서 갑작스런 악화를 보일 수도 있다. 본 논문에서는 이러한 다양한 증상과 검사소견들을 정리하여 보고, 그러한 증상을 일으키는 주된 질병들을 정리하여 감별진단과 검사를 체계적으로 접근할 수 있도록 하였다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제21권3호
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• pp.155-162
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• 2018

Infant formula is classified into standard cow's milk-based and special formulas. This review aimed at summarizing the types of special milk formulas currently sold in Korea, and the appropriate indications for the use of these formulas; lactose free formula, soy-based formula, protein hydrolysate formula, amino acid-based formula, preterm formula, medium chain triglyceride formula, low-phosphorus formula, protein-energy-enriched formula, and formulas for inborn errors of metabolism.

• 대한약학회:학술대회논문집
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• 대한약학회 2003년도 Proceedings of the Convention of the Pharmaceutical Society of Korea Vol.2-2
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• pp.214.4-215
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• 2003

In galactose metabolic pathway : there are three inborn metabolic disorders galactokinase deficiency (galactosemia type II), galactose-1-phosphate uridyl transferase(GALT) daficiency (galactosemia type I ), uridine diphosphate galactose-4-epimerase deficiency (galactosemia typeIII). Among these disorders GALT deficiency is the most severe and common. Infants with GALT deficiency fail to metabolize galactose-1-phosphate. As a consequence, galactose-1-phosphate and galactose are accumulated in blood in which GALS enzyme plays the role of a pathognomonic marker. (omitted)