• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.2
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• pp.53-57
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• 2022

Congenital metabolic disorders are rare inherited disorders resulting from a defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or impaired organelle function. Depending on the abnormality of biochemical metabolism, various precursors and their abnormal metabolites can accumulate in the body and the final products which are critical in normal physiology can be deficient, resulting in disease. Congenital metabolic disorders present complicated medical conditions involving several human organ systems, including nervous system, eyes, liver, and kidneys. Various proteins and lipids are involved in the development and homeostasis of the skin, so many congenital metabolic disorders present abnormal changes in skin and hair. In this review, congenital metabolic diseases related to amino acid and lipid metabolism accompanying skin abnormalities will be discussed.

• Journal of Physiology & Pathology in Korean Medicine
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• v.21 no.2
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• pp.561-566
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• 2007

After researching on infantile diseases in Hyungsang medicine, the writer got the conclusions as follows. The infants who are excess of the Yang energy need to nourish the Eum- blood. The main causes of the infantile disorders are congenital defect and malfunction of internal organs by nature, as results of these they suffer from mental disorders or being undergrown. And after birth they get ill from internal injury or external affections, mainly epilepsy by retention of undigested food, fever, cough, asthma, nasal obstruction, dermatopathia, and affection by cold, etc. In Hyungsang medicine Dam-body is apt to get ill from deficiency of Eum-blood and bangkwang-body from deficiency of Yang-energy. And infants are hare to be moderate in food, so they become to diseases of the Spleen and stomach, especially infants with Yangmyung type get to epilepsy, cough, skin disorders, and obese for the reasonof overeating. Among main infantile symptoms congenital defects, infantile mental disorders, and convulsive diseases come from congenital defect and malfunciton of internal organs, so it must be treated the symptoms following the reasons. Above all infantile mental disorders are treated not to separate the spirit from the body. And fever, cough and asthma, affection by cold, skin diseases, poor appetite, and obese come from deficiency of Kidney or the deficiency and excess of the Spleen and stomach. In order to prevent from infantile diseases right antenatal training, taking medicine rightly, exercise and eating good habits are needed to give guidance. Seeing through the clinical cases in Hyungsang medicine, we come to know that the infantile mental disorders come out primarily for the reasons of the congenital defect, and the infantile epilepsy come from malfunction of internal organs, and the nasal obstruction and skin diseases come from deficiency of Kidney or the deficiency and excess of the Spleen and stomach.

• Genomics & Informatics
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• v.15 no.3
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• pp.82-86
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• 2017

Chromosomal microarray (CMA) is a high-resolution, high-throughput method of identifying submicroscopic genomic copy number variations (CNVs). CMA has been established as the first-line diagnostic test for individuals with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), and multiple congenital anomalies (MCAs). CMA analysis was performed in 42 Korean patients who had been diagnosed with unexplained DD, ID, ASDs, and MCAs. Clinically relevant CNVs were discovered in 28 patients. Variants of unknown significance were detected in 13 patients. The diagnostic yield was high (66.7%). CMA is a superior diagnostic tool compared with conventional karyotyping and fluorescent in situ hybridization.

• Journal of Environmental Health Sciences
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• v.31 no.6
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• pp.451-456
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• 2005

Minamata disease made its first appearance in the world at Minamata City, Kumamoto Prefecture, in May 1956. In 1962 methyl mercury poisoning through the placenta was found for the first time in the world. This was called congenital Minamata disease. In all cases the clinical symptoms were consistent with those of cerebral palsy. The time and place of outbreak were the same as those for Minamata disease. Their mothers had eaten fish and shellfish during pregnancy. The principal symptoms of congenital Minamata disease are mentalretardation ($100\%$); primitive reflexes ($100\%$); disturbance of coordination ($100\%$); dysarthria ($100\%$); limb deformation (100%); growth disorders ($100\%$); nutritional disorders ($100\%$); chorea-athetose ($95\%$); and hypersalivation ($95\%$). However, today, when the world is polluted by mercury in various places and at various levels, the data we need is not represented by those severe cases, but rather by the chronic milder type. Even in Minamata, the issue of Minamata disease has not been resolved. And likewise, on a global scale the problem of Minamata disease is not yet over.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.35-42
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• 2018

Purpose: To follow up Korean patients with metabolic and endocrine disorders ascertained by Korea Genetics Research Center, and assess the long-term effectiveness of extended newborn screening program in Korea. Methods: From January 2000 to December 2017, tandem mass spectrometry and fluoroimmunoassay were employed in extended newborn screening (NBS). The NBS program obtained dried blood spots from 283,626 babies, 48 hours after birth, and screened for galactosemia, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and 50 preventable inborn errors of amino acid, fatty acid, and organic acid metabolism. Results: 28 cases of amino acid disorders, 75 cases of organic acid disorders, 27 cases of fatty acid disorders, 51 cases of urea cycle disorders, 127 cases of CH, 14 cases of CAH, and 15 cases of galactosemia were ascertained through NBS and subsequent confirmatory laboratory tests. Patients with amino acid metabolic disorders, galactosemia, CH, or CAH were more likely to have a better long-term outcome if detected early. Early management of MSUD led to much better outcome in over 90%. Despite early intervention, 32% of other organic acidemia cases still resulted in developmental delay and neurological problems. Fatty acid disorders showed varied results; those with EMA and MCAD had a good outcome, but those with VLCAD had serious neurological problems and considerably higher mortality. 75% with UCD experienced serious neurological complications and higher mortality. Conclusion: The nation-wide NBS program must be accompanied by comprehensive long-term management and physician and family education of inborn errors of metabolism for a better outcome.

• Child Health Nursing Research
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• v.1 no.1
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• pp.26-36
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• 1995

Children with metabolic disorders suffer from retardation and cognitive dysfunction. The task of caring for a mother may mean that she has less time and mony and more workload which may result in increased fatigue and depression and low well-being. The burden carried by mother due to the responsiblity take care of child. The descriptive study was done identify the burden in mother of children with metabolic disorders. The data was collected from November 1 to November 16, 1993. nineteen mothers were interviewed with metabolic disorders with questionnaire by mail. Burden was measured using existing tools by Zarit (1980), Montgomery(1985) . et al. Burden data was analyzed by the SPSS /pc+ program were tested using means, frequencies, Mann-Whitney, U-Wilcoxon Rank Sum Test and Kruskal-Wallis one way ANOVA The result of this study as follows : The meas score for burden was 2.8. (range from 34 to 4.95) The result of reiationship of demographic character and burden was no significant. In conclusion it was found that burden is correlated negatively to quality of life. In this study, burden was scored relatively low. Further qualitative research is needed to validats the nature of burden.

• Journal of Korea Association of Health Promotion
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• v.2 no.3
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• pp.63-72
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• 2004

• Journal of Korea Association of Health Promotion
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• v.2 no.2
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• pp.209-214
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• 2004

• Clinical and Experimental Pediatrics
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• v.63 no.3
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• pp.79-87
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• 2020

Inherited platelet disorders (IPDs), which manifest as primary hemostasis defects, often underlie abnormal bleeding and a family history of thrombocytopenia, bone marrow failure, hematologic malignancies, undefined mucocutaneous bleeding disorder, or congenital bony defects. Wide heterogeneity in IPD types with regard to the presence or absence of thrombocytopenia, platelet dysfunction, bone marrow failure, and dysmegakaryopoiesis is observed in patients. The individual processes involved in platelet production and hemostasis are genetically controlled; to date, mutations of more than 50 genes involved in various platelet biogenesis steps have been implicated in IPDs. Representative IPDs resulting from defects in specific pathways, such as thrombopoietin/MPL signaling; transcriptional regulation; granule formation, trafficking, and secretion; proplatelet formation; cytoskeleton regulation; and transmembrane glycoprotein signaling are reviewed, and the underlying gene mutations are discussed based on the National Center for Biotechnology Information database and Online Mendelian Inheritance in Man accession number. Further, the status and prevalence of genetically confirmed IPDs in Korea are explored based on searches of the PubMed and KoreaMed databases. IPDs are congenital bleeding disorders that can be dangerous due to unexpected bleeding and require genetic counseling for family members and descendants. Therefore, the pediatrician should be suspicious and aware of IPDs and perform the appropriate tests if the patient has unexpected bleeding. However, all IPDs are extremely rare; thus, the domestic incidences of IPDs are unclear and their diagnosis is difficult. Diagnostic confirmation or differential diagnoses of IPDs are challenging, time-consuming, and expensive, and patients are frequently misdiagnosed. Comprehensive molecular characterization and classification of these disorders should enable accurate and precise diagnosis and facilitate improved patient management.

• Journal of Chest Surgery
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• v.21 no.6
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• pp.1084-1094
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• 1988

Conservative management of 3 iatrogenic perforations of intrathoracic esophagus was reviewed. The primary disorders were achalasia in 2 patients and congenital tracheoesophageal fistula in 1 patient. Perforation occurred after treatment of the primary disorders in the distal esophagus in 2 patients and mid-thoracic esophagus in 1 patient. All the perforations appeared late after the previous treatments and the inflammation spread to mediastinum and pleural cavity in all the 3 patients. Conservative management of esophageal perforation was carried out with intraluminal drainage from the perforated site of esophagus[insertion of Levin`s tube and continuous suction], pleural drainage and feeding of liquid diet through gastrostomy tube with Fowler`s position. The patients revealed spontaneous closure of perforated sites about 3 to 4 weeks after this conservative management without open thoracotomy. This result suggests that this conservative management may be accepted as therapeutic method in the thoracic esophageal perforations regardless of cause and time of the perforation.