• 보험의학회지
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• 제18권
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• pp.107-110
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• 1999

The disorders of congenital metabolic errors causing mental retardation can be prevented by early diagnosis and treatment. We analysed 144,000 neonatal blood samples for phenyketonuria(PKU), maple syrup urine disease(MSUD), homocystinuria(HCU) and histidinuria(HE) by bacterial inhibition method, and galactosemia(GAL) by Paigen method. In our survey, the positive were 4 samples in PKU(4mg/dl;2, 6mg/dl;1, 8mg/dl;1), 8 samples in MSUD(4mg/dl;2, 6mg/dl;2, 8mg/dl;3, 10mg/dl;1), 4 samples in HCU(4mg/dl;2, 6mg/dl;2), 4 samples in Galactosemia(4mg/dl;2, 6mg/dl;1, 8mg/dl;1), respectively. while, no one was positive in HE. The frequncy rate were 1/36,000 for PKU, HCU and GAL, 1/18,000 for MSUD, respectively. But those for HE couldn't be detected in our survey. In this study, the hightest frequency rate was 1/18,000 of MSUD, following were 1/36,000 for PKU, HCU and GAL, respectively. As results our data, it is our opinion that neonatal screening should be performed in terms of national policies for ealy diagnosis and theraphy.

• 대한한방소아과학회지
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• 제13권2호
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• pp.41-77
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• 1999

The purpose of this research is that infant artificial feeding products is used in clonic with the study on characteristic, ingredients and indication of geneal and special modified milks. The result is as follows. 1. The main ingredients of four company products-Maeil , Namyang, Pasteur, Aebout is similar but the functional is different 2. General infant formula is divided into 100days, 5-6months, 12months, 24months and 36months out of consideration for growth and development of infant. 3. The indication and sorts of the special infant formula used at a hospital is as follows. PKU-1, PKU-2 formula is available for phenylketonuria. MPA formula is available for propionic acidemia and methylmalonic acidomia. UCD is available for urea cycle disorder Leucine-free formula is available for isovaleric acidemia. Maeil LP is available for hypocalcemia. MCT formula is available for indigestion and malabsorption of fat. BCAA-free formula is available for Maple syrup urine disease. Protein-free formula is available for limit of protein uptake or mixture of peculiar amino acid or higher uptake of mineral, vitamin, calory. Methionine-free formula is available for homocystinuria and hypermethioninemia. Premature infant is available for premature and low birth weight. 4. The special infant formula published in nation is as follows. Maeil soy A, Maeil MF1, Namyang hope doctor and Maeil HA is available for diarrhea. Maeil HA, Maeil HA-21 and Namyang hope allergy is available for hypoallergy. Maeil soy A is available for diarrhea of milk allergy. Maeil MF1 or Namyang hope doctor is available for acute bacterial or viral temporal diarrhea. Maeil HA is available for allergic chronic diarrhea. Maeil HA and Namyang hope allergy as eHP-formula is available for chronic diarrhea for lactose intolerance and milk allergy. Maeil-21 as pHP-formula for neonates with allergy family, allergic symptoms such as atopic dermatitis, asthma except digestive system.

• 대한유전성대사질환학회지
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• 제3권1호
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• pp.86-93
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• 2003

Background : The SCL began screening of newborns and high risk group blood spots with tandem mass spectrometry (MS/MS) in April 2001. Our goal was to determine approximate prevalence of metabolic disorders, optimization of decision criteria for estimation of preventive effect with early diagnosis. This report describes the ongoing effort to identify more than 30 metabolic disorders by MS/MS in South Korea. Methods : Blood spot was collected from day 2 to 30 (mostly from day 2 to 10) after birth for newborn. Blood spot of high risk group was from the pediatric patients in NICU, developmental delay, mental retardation, strong family history of metabolic disorders. One punch (3.2 mm ID) of dried blood spots was extracted with $150{\mu}L$ of methanol containing isotopically labelled amino acids (AA) and acylcarnitines (AC) internal standards. Butanolic HCl was added and incubated at $65^{\circ}C$ for 15 min. The butylated extract was introduced into the inlet of MS/MS. Neutral loss of m/z 102 and parent ion mode of m/z 85 were set for the analyses of AA and AC, respectively. Diagnosis was confirmed by repeating acylcarnitine profile, urine organic acid and plasma amino acid analysis, direct enzyme assay, or molecular testing. Results : Approximately 31,000 neonates and children were screened and the estimated prevalence (newborn/high risk group), sensitivity, specificity and recall rate amounted to 1:2384/1:2066, 96.55%, 99.98%, and 0.73%, respectively. Confirmed 28 (0.09%) multiple metabolic disorders (newborn/high risk) were as follows; 13 amino acid disorders [classical PKU (3/4), BH4 deficient-hyperphenylalaninemia (0/1), Citrullinemia (1/0), Homocystinuria (0/2), Hypermethioninemia (0/1), Tyrosinemia (1/0)], 8 organic acidurias [Propionic aciduria (2/1), Methylmalonic aciduria (0/1), Isovaleric aciduria (1/1), 3-methylcrotonylglycineuria (1/0), Glutaric aciduria type1 (1/0)], 7 fatty acid oxidation disorders [LCHAD def. (2/2), Mitochondrial TFP def. (0/1), VLCAD def. (1/0), LC3KT def. (0/1). Conclnsion : The relatively normal development of 10 patients with metabolic disorders among newborns (except for the expired) demonstrates the usefulness of newborn screening by MS/MS for early diagnosis and medical intervention. However, close coordination between the MS/MS screening laboratory and the metabolic clinic/biochmical geneticists is needed to determine proper decision of screening parameters, confirmation diagnosis, follow-up scheme and additional tests.

• 핵의학기술
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• 제13권3호
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• pp.159-164
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• 2009

목적 : 본원에서 시행하고 있는 혈액 검사 경고치 자동통보 시스템의 목적은 환자의 혈액 검사 결과에 따라 신속한 치료를 받아야 할 상황이 발생되면 구축된 자동통보 시스템을 통해 즉시 환자 주치의에게 결과를 알려주고, 이에 따른 적절한 처치가 시행되어 환자에게 발생될 수 있는 치명적 영향을 줄이기 위함이다. 최근 핵의학과 혈액 검사실에서도 TSH, FT4, $17{\alpha}$-OHPGR 3종목에 대해 혈액 검사 경고치 자동통보 시스템을 실시함에 따라 운영현황을 소개 하고자 한다. 실험재료 및 방법 : 대상은 2009년 2월 19일부터 5월 11일까지 신생아과로부터 의뢰된 TSH, FT4, $17{\alpha}$-OH-PGR 처방환자 중 다음 기준에 해당하는 환자들로 하였다. N2340 Thyroid-Stimulating Hormone: >$10{\mu}IU/mL$(참고치: 0.4~5.0) N2360 Free-Thyroxine: <$0.8{\mu}g/dL$(참고치: 0.8~1.9), N2444 $17{\alpha}$-OH-Progesterone: >$30{\mu}g/dL$(참고치: 남성(0.6~3.42), 여성 난포기(0.19~1.8)) 방법은 OCS Program에 대상 검사 종목, 진료과, 경고치보고 기준 값을 입력해 놓은 후 확정된 결과가 입력된 조건에 해당하면 처방의 및 주치의의 PDA로 SMS를 전달하게 된다. 결과 : 경고치 자동통보 시스템으로 보고된 결과는 2009년 2월 19일부터 3월 31일까지 총15건이었고 2009년 4월 1일부터 5월 11일까지 총 18건으로 3건의 증가가 있었다.