• Journal of Genetic Medicine
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• v.9 no.1
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• pp.42-46
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• 2012

Short-chain acyl-CoA dehydrogenase deficiency (SCADD; OMIM # 201470) is an autosomal recessive inborn error of mitochondrial fatty acid ${\beta}$-oxidation, presenting with a variety of clinical signs and symptoms. Developmental delay, hypertonia or hypotonia, ketotic hypoglycemia, and epilepsy are most frequently reported. In general, patients diagnosed through newborn screening have shown normal growth and development in contrast to those diagnosed as a result of clinically initiated evaluations. Here, the case of an asymptomatic Korean newborn with SCADD identified by tandem mass spectrometry is reported. The patient showed an elevated concentration of butyrylcarnitine detected on newborn screening. Urinary excretion of ethylmalonic acid was elevated by urine organic acid analysis. To confirm the diagnosis of SCADD, a direct sequencing analysis of 10 coding exons and the exon-intron boundaries of the ACADS gene were performed. Genetic analysis of ACADS showed the following novel compound heterozygous missense mutations: c.277C>A (p.Leu93Ile) on exon3 and c.682G>A (p.Glu288Lys) on exon6. These results will provide further evidence of mutational heterogeneity for SCADD.

• Journal of Korean Medical Science
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• v.33 no.51
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• pp.324.1-324.6
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• 2018

Oxysterol $7{\alpha}$-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by CYP7B1 mutations. As it may cause rapid progression to end-stage liver disease even in early infancy, a high index of suspicion is required to prevent fatal outcomes. We describe the case of a 3-month-old boy with progressive cholestatic hepatitis and severe hepatic fibrosis. After excluding other etiologies for his early liver failure, we found that he had profuse urinary excretion of $3{\beta}$-monohydroxy-${\Delta}^5$-bile acid derivatives by gas chromatography/mass spectrometry analysis with dried urine spots on filter paper. He was confirmed to have a compound heterozygous mutation (p.Arg388Ter and p.Tyr469IlefsX5) of the CYP7B1 gene. After undergoing liver transplantation (LT) from his mother at 4 months of age, his deteriorated liver function completely normalized, and he had normal growth and development until the current follow-up at 33 months of age. We report the first Korean case of oxysterol $7{\alpha}$-hydroxylase deficiency in the youngest infant reported to undergo successful living donor LT to date.

• Korean Journal of Family Social Work
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• no.56
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• pp.69-104
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• 2017

This research aims to understand in depth and contextually of the grandchildren 's growth with their grandparents. The data were collected through in-depth interviews with observation and documents and analyzed using life history approach. The life history method was based on Mandelbaum(1973)'s framework including 'life dimensions', 'turning points', and 'adaptations'. After the analysis, central themes in each domain emerge as follows; 'social prejudice', 'growing poverty', 'a painstaking smile', 'more polite and honest', and 'being alone' in life dimensions, 'parentless children', 'a painful memory, outcast', and 'going to college' in turning points, and 'a willing person, parents', 'a blessed person', 'self-reliance and scale of economic life', and 'diligence and inborn cheerfulness' in adaptations, respectively. Based on these results, several intervention strategies and implications for healthy growth of grandchildren.

• Childhood Kidney Diseases
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• v.23 no.2
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• pp.59-66
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• 2019

Background: Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1-3 (PH1-PH3) caused by AGXT, GRHPR, and HOGA1 gene mutations, respectively. We performed a retrospective case series study of Korean pediatric patients with PH. Methods: In total, 11 unrelated pediatric patients were recruited and their phenotypes and genotypes were analyzed by a retrospective review of their medical records. Results: Mutational analyses revealed biallelic AGXT mutations (PH1) in nine patients and a single heterozygous GRHPR and HOGA1 mutation in one patient each. The c.33dupC was the most common AGXT mutation with an allelic frequency of 44%. The median age of onset was 3 months (range, 2 months-3 years), and eight patients with PH1 presented with end stage renal disease (ESRD). Patients with two truncating mutations showed an earlier age of onset and more frequent retinal involvement than patients with one truncating mutation. Among eight PH1 patients presenting with ESRD, five patients were treated with intensive dialysis followed by liver transplantation (n=5) with/without subsequent kidney transplantation (n=3). Conclusion: Most patients presented with severe infantile forms of PH. Patients with two truncating mutations displayed more severe phenotypes than those of patients with one truncating mutation. Sequential liver and kidney transplantation was adopted for PH1 patients presenting with ESRD. A larger nation-wide multicenter study is needed to confirm the genotype-phenotype correlations and outcomes of organ transplantation.

• Parasites, Hosts and Diseases
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• v.59 no.5
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• pp.447-455
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• 2021

Vivax malaria incidence in Korea is now decreased and showing a low plateau. Nowadays, vivax malaria in Korea is expected to be successfully eliminated with anti-malaria chemotherapy, primaquine, and vector control. The glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with potential hemolytic anemia after primaquine administration. This inborn disorder has a pivotal polymorphism with genetic variants and is the most prevalent X-chromosome-linked disorder. The prevalence of G6PD deficiency was previously reported negligible in Korea. As the population of multicultural families pertaining marriage immigrants and their adolescents increases, it is necessary to check G6PD deficiency for them prior to primaquine treatment for vivax malaria. The prevalence of G6PD variants and G6PD deficiency in multicultural families was performed in 7 counties and 2 cities of Jeollanam-do (Province), Gyeonggi-do, and Gangwon-do. A total of 733 blood samples of multicultural family participants were subjected to test the phenotypic and genetic G6PD deficiency status using G6PD enzyme activity quantitation kit and PCR-based G6PD genotyping kit. The G6PD phenotypic deficiency was observed in 7.8% of male adolescent participants and 3.2% of materfamilias population. Based on the PCR-based genotyping, we observed total 35 participants carrying the mutated alleles. It is proposed that primaquine prescription should seriously be considered prior to malaria treatment.

• Journal of English Language & Literature
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• v.55 no.1
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• pp.3-24
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• 2009

The Harry Potter series is considered to represent the multicultural aspect of contemporary British society and to show critical perspectives of racism. This series, however, also includes many elements of British imperialism. This paper examines the ideas about education and Harry's role in relation to British imperialism. One of the main ideas prevalent in 19th century British boys' public schools was that people's blood origin is the most important element in determining their characteristics, ability and moral qualities. The students' inherited capacity and their family background are more highly regarded than their secondary learning and training. This reflects a 19th century concept that ultimately, inborn quality makes 'a hero', a truth presented in the educational policies of Hogwarts. Hogwarts' educational policies and systems can also be related to 'developmentalism', which defines children as imperfect, in-progress and incomplete, thus needing proper training and discipline. As this concept functioned to justify the control of children while educating them, Hogwarts adopts diverse controlling devices and oppressive policies, which are mainly justified in the name of education. On the one hand, child characters are controlled and oppressed by the school authorities, on the other hand, some of the students such as Harry have remarkable magic powers enough to resist the adult authority and even to save the magic society from the evil power. Harry plays dual roles, which the British boys of the Empire were assigned from their society; they are important heirs to conquer the 'evil' or 'barbarous' world but need to be obedient to a 'good' authority to achieve the mission. Harry's magic power and self-discipline ultimately contribute to fulfilling Dumbledore's mission, which mirrors 19th century British boys' roles as the heirs of the British Empire.

• Clinical and Experimental Pediatrics
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• v.48 no.4
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• pp.369-375
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• 2005

Purpose : Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In this study, a cost-benefit analysis was performed on the neonatal screening of phenylketonuria and congenital hypothyroidism in Korea. Methods : This study included 2,908,231 neonates who took the neonatal screening on phenylketonuria and congenital hypothyroidism in Korea from January 1991 to December 2003. From those neonates, the incidence rates of phenylketonuria and congenital hypothyroidism were measured. Furthermore, based on 495,000 babies born in 2002, were calculated and compared the total costs in case when neonatal screening on phenylketonuria and congenital hypothyroidism is implemented, and when not. Results : If the neonatal screening on phenylketonuria and congenital hypothyroidism is implemented, benefits far exceed costs at a ratio of 1.77 : 1 in phenylketonuria, and 11.11 : 1 in congenital hypothyroidism. In terms of wons, the present neonatal screening on phenylketonuria and congenital hypothyroidism will gain us more than 29 billion wons every year. Conclusion : This study only concerns the monetary aspects of the neonatal screening. Therefore, the benefits of the neonatal screening is underestimated by ignoring precious but not measurable values such as quality of life. However, the present neonatal screening on phenylketonuria and congenital hypothyroidism is found to be beneficial and should continue for the good of the nation as well as that of the patients.

• Neonatal Medicine
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• v.16 no.1
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• pp.36-46
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• 2009

Purpose: To evaluate the neonatal statistics on a national basis, data for birth characteristics and neonatal mortality were collected and analyzed from 57 hospitals in Korea. Methods: Questionnaires were distributed to determine the characteristics of neonatal births and mortality rates in 57 hospitals in Korea during 2007. We analyzed the characteristics of all inborn births and hospitalized neonates in the neonatal care units (NICUs) and compared the results with published Korean data from 1996 and 2002. Results: A total of 40,433 inborn live births were reported from the 57 hospitals during 2007. Pre-term, term, and post-term births comprised 24.2%, 75.6%, and 0.2% of the neonates, respectively. Low birth weight infants (LBWIs), very low birth weight infants (VLBWIs), and extremely low birth weight infants (ELBWIs) made up 22.0%, 4.6%, and 1.7% of the neonates, respectively. A total of 21,957 (collected by gestational period) and 21,356 (collected by birth weight) neonates were hospitalized in the 57 NICUs. Pre-term, term, and post-term neonates comprised 39.8%, 59.8%, and 0.4% of the neonates, respectively. LBWIs, VLBWIs, and ELBWIs made up 37.3%, 9.5%, and 3.3% of the neonates, respectively. Pre-term, term, and post-term neonates had mortality rates of 4.5%, 0.7%, and 3.7%, respectively, while the mortality rates of LBWIs, VLBWIs, and ELBWIs were 4.7%, 15.3%, and 32.2%, respectively. In comparison with prematurity data from 1996 and 2002, LBWIs, and ELBWIs had a marked increase in birth frequency and a decreased mortality rate in Korea during 2007. Conclusion: The number of live births and the survival rate of pre-term neonates, especially VLBWIs and ELBWIs, are increasing. Even though the outcomes of neonatal care are improving, further efforts to manage these premature infants are needed.

• 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.

• Pediatric Infection and Vaccine
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• v.30 no.3
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• pp.129-138
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• 2023

Purpose: Cancer incidence is known to be higher in patients with inborn errors of immunity (IEI) compared to the general population in addition to traditionally well-known infection susceptibility. We aimed to investigate cancer occurrence in patients with IEI in a single center. Methods: Medical records of IEI patients treated at Samsung Medical Center, Seoul, Korea were retrospectively reviewed from November 1994 to September 2023. Patients with IEI and cancer were identified. Results: Among 194 patients with IEI, seven patients (3.6%) were diagnosed with cancer. Five cases were lymphomas, 4 of which were Epstein-Barr virus (EBV)-associated lymphomas. The remaining cases included gastric cancer and multiple myeloma. The median age at cancer diagnosis was 18 years (range, 1-75 years). Among patients with cancer, underlying IEIs included X-linked lymphoproliferative disease-1 (XLP-1, n=3), activated phosphoinositide 3-kinase delta syndrome (APDS, n=2), and cytotoxic T-lymphocyte antigen 4 (CTLA-4) haploinsufficiency (n=2). Seventy-five percent (3/4) of XLP-1 patients, 40.0% (2/5) of APDS patients, and 50.0% (2/4) of CTLA-4 haplo-insufficiency patients developed cancer. Patients with XLP-1 developed cancer at earlier age (median age 5 years) compared to those with APDS and CTLA-4 (P<0.001). One patient with APDS died during hematopoietic cell transplantation. Conclusions: Cancer occurred in 3.6% of IEI patients at a single center in Korea. In addition to infectious complications and inflammation, physicians caring for IEI patients should be aware of the potential risk of cancer, especially in association with EBV infection.