• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.1-9
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• 2014

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 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia and congenital hypothyroidism for newborns delivered from low class pregnant women registered in health centers. Government decreased the test items from six to two, PKU and congenital hypothyroidism to increase test numbers with same budget from 1995. 78 laboratories wanted to participate for neonatal screening test in 1999. Government decided to screen six items of PKU, congenital hypothyroidism, maple syrup urine disease, homocystinuria, galactosemia and congenital adrenal hyperplasia from 2006. In 2014, thirteen laboratories are participating. Inter laboratory quality control was started 6 times a year from 1994. In case a patient with an inherited metabolic disease is diagnosed by screening of government program, special milk is provided at government's expense. According to the government project, from 1997 to 2013, 7,080,569 newborns were screened. 144 PKU, 2.451 congenital hypothyroidism were detected. So incidence of PKU is 1/49,170 and congenital hypothyroidism is 1/2,888. The cost benefit of performing screening procedures coupled with treatment has been estimated to be as high as 1.77 times in PKU, 11.11 times in congenital hypothyroidism than cost without screening. By January 2007, many European countries had expanded of their newborn screening programs by inclusion of Tandem mass spectrometry. We are trying to increase the budget to test all newborns for Tandem mass spectrometry from 2016. We are considering four to five central laboratories which cover all newborns and are equipped with tandem mass spectrometer & enzyme immunoassay for TSH, 17OHP & enzyme colorimetric assay for galactose. And I hope to expand test including Wilson disease screening test and lysosomal storage diseases.

• 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.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.835-840
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• 2007

Any infant noted to be jaundiced at 2 weeks of age should be evaluated for cholestasis with measurement of total and direct serum bilirubin. With the insight into the clinical phenotype and the genotype-phenotype correlations, it is now possible to evaluate more precisely the neonate who presents with conjugated hyperbilirubinemia. Testing should be performed for the specific treatable causes of neonatal cholestasis, specifically sepsis, galactosemia, tyrosinemia, citrin deficiency and endocrine disorders. Biliary atresia must be excluded. Low levels of serum gamma-glutamyl transferase in the presence of cholestasis should suggest progressive familial intrahepatic cholestasis type 1, 2, or arthrogryposis- renal dysfunction-cholestasis syndrome. If the serum bile acid level is low, a bile acid synthetic defect should be considered. Molecular genetic testing and molecular-based diagnostic strategies are in evolution.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.35-41
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• 2012

Since the causative gene, SLC25A13 which encodes citrin, was discovered in 1999, over 500 cases with citrin deficiency have been identified. Two phenotypes can occur by citrin deficiency, neonatal intrahepatic cholestasis by citrin deficiency (NICCD) and adult-onset type II citrullinemia (CTLN2). Some patients with NICCD develop CTLN2 in their later lives. Although cholestatic jaundice is spontaneously resolved within the first year of life in most cases with NICCD, a few cases experience progressive hepatic failure. In this report, two neonates with severe type of NICCD were described. Both cases exhibited neonatal cholestatic jaundice, hyperammonemia and severe coagulopathy. Of note, plasma citrulline and blood galactose levels were extremely high. Serum ${\alpha}$-fetoprotein, plasma methionine, arginine, and threonine-to-serine ratio were elevated as well. SLC25A13 mutations were found in all the four alleles of both patients. With the commencement of lactose-free formula, coagulopathy and hyperammonemia were resolved, and galactose level was normalized. Currently, no factor has been identified to predict the prognosis of NICCD. More experiences are needed to build up the adequate therapeutic strategies for severe type of NICCD. Our experience, however, indicates that the degree of citrullinemia and galactosemia might reflect the severity.

• Analytical Science and Technology
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• v.20 no.5
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• pp.393-399
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• 2007

In principle, the blood galactose level may be determined conveniently with a strip-type biosensor similar to that for glucose. In this study, we describe the development of a disposable galactose biosensor strip for point-of-care testing. The sensor strip is constructed with screen-printed carbon paste electrode (SPCE) and sample amount (< $100{\mu}L$). The developed strip the galactose level in less than 90 s using bienzymatic system of galactose oxidase (GAO) and horseradish peroxidase (HRP). The effects of pH, mediator (1,1-ferrocenedimethanol) concentration, ratio of enzymes, and applied potential were determined preliminarily with glassy carbon electrodes, and optimized further with the strip-type electrodes. The sensor exhibits linear response in the range of $0{\sim}400{\mu}M$ ($r^2$ = 0.997, S/N = 3). Since a low working potential, in principle, the fabricated disposable galactose biosensor has -100 mV (vs. Ag/AgCl), it is applied for the detection of galactose, interfering responses from common interferents such as ascorbic acid, uric acid and acetaminophen could be minimized. The sensor has been used to determine the total galactose level in standard samples with satisfactory reproducibility (CV = 5 %).

• The Korean Journal of Nuclear Medicine Technology
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• v.13 no.3
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• pp.159-164
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• 2009

Purpose: The automatic notification system for alarm values on blood tests conducted by this hospital is designed to immediately inform the attending physician of the result of a blood test, to help the relevant patient to promptly receive proper treatment, and furthermore, to reduce the likelihood of a fatal influence to the patient. From 2004, the clinical pathology department of this hospital has been operating an automatic notification system for blood tests, in relation to the items of WBC, Hb, Plt, PB cell morphology, Malaria, PT, aPTT, BT, fibrinogen, Ca, K, Na, Cl, Mg, Glucose, Ketone, Digoxin, PKU, Homocystinuria, 17-OHP, Neonatal TSH, and Galactosemia. Recently, the blood test room of the nuclear medicine department has been operating an automatic notification system for the alarm values of a blood test, in relation to three items of TSH, FT4, and 17-${\alpha}$-OH-PGR, and the details of its operation will be described here. Materials and Methods: The subjects were newborn babies that were receiving TSH, FT4, and $17{\alpha}$-OH-PGR prescriptions from February $19^{th}$ to May $11^{st}$, 2009, and who met with the following criteria: N2340 Thyroid-Stimulating Hormone: >$10{\mu}IU/mL$ (Reference value: 0.4~5.0). N2360 Free-Thyroxine: <$0.8{\mu}g/dL$ (Reference value: 0.8~1.9), N2444 $17{\alpha}$-OH-Progesterone: >$30\;{\mu}g/mL$ (Reference value: Male (0.6~3.42), Female follicular phase (0.19~1.8). The automatic notification system was operated by entering test items, relevant treatment departments, and standard values for reporting alarm values into the OCS program, and then transmitting results that met with the input conditions to the PDAs of the prescription and the attending physician by SMS. Results: Reporting an alarm value of the nuclear medicine blood test, which can have a fatal influence on the lives of patients, will help cure patients, improve the quality of the test, and furthermore, will increase the patient's satisfaction with the prescription and treatment of the test.