• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.23-34
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• 2012

Purpose: Acute symptomatic seizures are caused by structural changes, inflammation or metabolic changes of brain, such as tumor, stroke, meningitis, encephalitis and metabolic disorders. Inherited metabolic disorders that can cause seizures are organic acidopathies, lysosomal storage disorders, peroxisomal disorders and mineral disorders. We have done this study to find out the importance of organic acidopathies causing seizure disorders in Korean childhood and adolescent patients. Method: Retrograde analysis for 1,306 patients with seizure disorders whose clinical informations are available and have done urine organic acid analysis for 5 years period, between Jan. 1st 2007 to Dec. 31th 2011. Statistical analysis was done with Student's t test using SPSS. Result: Out of 1,306 patients, 665 patients (51%) showed abnormalities on urine organic acid analysis. The most frequent disease was mitochondrial respiratory chain disorders (394, 30.1%), followed by mandelic aciduria (127, 9.7%), ketolytic defects (81, 6.2%), 3-hydroxyisobutyric aciduria (19, 1.4%), glutaric aciduria type II (10, 0.8%), ethylmalonic aciduria (4), propionic aciduria (4), methylmalonic aciduria (3), glutaric aciduria type I (3), pyruvate dehydrogenase deficiency (3), pyruvate carboxylase deficiency (3), isovaleric aciduria (2), HMG-CoA lyase deficiency (2), 3-methylcrotonylglycinuria (2), fatty acid oxidation disorders (2), fumaric aciduria (1), citrullinemia (1), CPS deficiency (1), MCAD deficiency (1). Conclusion: On neonatal period, mandelic aciduria due to infection was found relatively frequently. Mitochondrial disorders are most frequent etiologic disease on all age group, followed by ketolytic defects and various organic acidopathies. The number and diversities of organic acidopathies emphasize meticulous evaluation of basic routine laboratory examinations and organic acid analysis with initial sample on every seizure patient.

• Pediatric Infection and Vaccine
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• v.24 no.3
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• pp.134-140
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• 2017

Purpose: Severe combined immunodeficiency (SCID) is the most serious form of primary immunodeficiency. Infants with SCID are susceptible to life-threatening infections. To establish newborn screening for SCID in Korea, we performed a screening test for T-cell receptor excision circle (TREC) and ${\kappa}$-deleting recombination excision circle (KREC) in neonates and investigated the awareness of SCID among their parents. Methods: Collections of dried blood spots from neonates and parent surveys were performed at the Samsung Medical Center and Cheil General Hospital & Women's Healthcare Center in Korea. The amplification crossing point (Cp) value <37.0 was defined as TREC/KRECpositive based on cutoff values from measuring multiplex real-time polymerase chain reaction. A Cp value >39.0 was defined as negative. Results: For TREC/KREC screening, 141 neonates were enrolled; 63 (44.7%) were male. One hundred forty neonates (99.3%) had positive TREC/KREC results at the time of the initial test; 82.3% and 75.9% were positive and 17.0% and 23.4% were weakly positive for TREC and KREC, respectively. In one neonate (0.7%), the initial TREC/KREC test result was negative. However, repeated tests obtained and confirmed a positive result. For an awareness survey, 168 parents were engaged. Only 2% of parents (3/168) knew that the newborn screening test for SCID had been introduced and performed in other countries. Eighty-four percent of parents (141/168) replied that nationwide newborn SCID screening should be performed in Korean newborns. Conclusions: In this study, newborn SCID screening was performed along with assessment of public awareness of the SCID test in Korea. The study results showed that newborn SCID screening can be readily applied for clinical use at a relatively low cost in Korea.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.358-364
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• 2010

Purpose : The aim of this study was to determine the efficacy of $Synagis^{(R)}$ (palivizumab) in reducing the respiratory syncytial virus (RSV) readmission rate in very low birth weight infants (VLBWI ) and the subgroup that showed the most effective vaccination. Methods : We enrolled 350 VLBWI who had been discharged alive from the neonatal intensive care unit of Samsung Medical Center from January 2005 to December 2007 and were followed up for at least one year. A retrospective study based on medical records was performed for a period of one year after discharge. RSV readmission rate was investigated according to BPD (bronchopulmonary dysplasia, requiring oxygen at postnatal day 28) and $Synagis^{(R)}$ prophylaxis. We categorized the subgroups by the severity of BPD gestational age, and birth weight and compared the RSV readmission rates between subgroups. Results : Eleven VLBWI were readmitted. $Synagis^{(R)}$ prophylaxis resulted in a 86% reduction in the rate of readmission due to RSV infection (prophylaxis group, 0.7% and no prophylaxis group, 5.0%; P =0.02). Readmission rate in BPD patients was also reduced in the prophylaxis group (0.7% in the prophylaxis group vs. 5.2% in the no prophylaxis group, P =0.03). The readmission rate in patients without BPD was reduced in the prophylaxis group (0% in the prophylaxis group vs. 4.9% in the no prophylaxis group, P =1.00), but this was not statistically significant.Conclusion : $Synagis^{(R)}$ prophylaxis was effective at reducing RSV readmission in VLBWI. Its efficacy was verified irrespective of BPD, gestational age, or birth weight.