• Clinical and Experimental Pediatrics
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• v.54 no.10
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• pp.425-428
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• 2011

Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns. We experienced a case of a 3-day-old boy with OTC deficiency who appeared healthy in the first 2 days of life but developed lethargy and seizure soon afterwards. His serum ammonia level was measured as > $1,700{\mu}g/dL$ (range, 0 to $45{\mu}g/dL$). Continuous renal replacement therapy (CRRT) in the mode of continuous venovenous hemodiafiltration was immediately applied to correct the raised ammonia level. No seizure occurred after the elevated ammonia level was reduced. Therefore, CRRT should be included as 1 of the treatment modalities for newborns with inborn errors of metabolism, especially hyperammonemia. Here, we report 1 case of successful treatment of hyperammonemia by CRRT in a neonate with OTC deficiency.

• Clinical and Experimental Pediatrics
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• v.49 no.11
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• pp.1125-1139
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• 2006

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 & congenital hypothyroidism for newborns delivered from low class pregnant women registered in health centers. Government decreased the test items from six to two, PKU & congenital hypothyroidism to increase test numbers with same budget from 1995. Government decided to test PKU & hypothyroidism for all newborns from 1997. 78 laboratories wanted to participate for neonatal screening test in 1999. Government didn't decide laboratory center for a certain district and placed responsibility on free competition. Government are planning to test 573,000 newborns from 1998, Government decided to screen 6 items PKU, congenital hypothyroidism, maple syrup urine disese, homocystinuria, galactosemia and congenital adrenal hyperplasia from 2006. 17 laboratores are participating now. The cost of screening test is supported by both the federal government and local government on a 40-60 basis. In case a patient with an inherited metabolic disease is diagnosed by screening of government program, special milk is provided at government's expense. Interlaboratory quality control was started 6 times a year from 1994. According to the government project, 3,707,773 newborns were screened. 86 PKU, 718 congenital hypothyroidism were detected. So incidence of PKU is 1/43,114 and congenital hypothyroidism is 1/4,612. Maeil dairy company produced new special formula for PKU, MMA and PA, MSUD, urea cycle disorder, homocystinuria, isovaleric acidemia from Oct. 1999. 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. We are trying to increase the budget to test all newborns for Tandem mass sereening & Wilson disease from 2008. Now it is a very important problem to decrease laboratory numbers of neonatal screening in Korea. So we are considering 4-5 central laboratories which cover all newborns and are equipped with tandem mass spectrometer & enzyme immunoassay for TSH, 17OHP & enzyme colorimetric assay for galactose.

• Neonatal Medicine
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• v.17 no.2
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• pp.250-253
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• 2010

Citrullinemia type I is an urea cycle defect caused by mutations in the argininosuccinate synthetase (ASS1) gene. We report a novel argininosuccinate synthetase gene mutation in a Korean family with type I citrullinemia. Metabolic evaluation revealed significant hyperammonemia. Amino acid/acylcarnitine screening using tandem mass spectrometry showed high level of citrulline. Plasma amino acid analysis showed high level of citrulline and the urine organic acid analysis showed makedly increased level of orotic acid. To confirm diagnosis of citrullinemia we did mutation analysis of the ASS1 gene. The patient was found to have mutations of c.689G>C (p.G230A) and c.892G>A (p.E298K), which were new types of argininosuccinate synthetase gene mutation have never been reported in Korea. We report a novel case of argininosuccinate synthetase 1 gene mutation and suggest that the gene study to the family members is necessary to carry out when a patient is diagnosed as citrullinemia.

• Preventive Nutrition and Food Science
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• v.20 no.4
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• pp.238-245
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• 2015

A non-protein amino acid, L-ornithine (Orn), has been shown to stimulate the urea cycle and tissue protein synthesis in the liver. The purpose of the current study was to assess whether Orn affects the mammalian target of rapamycin (mTOR) complex 1 (mTORC1) pathway, which is involved in protein synthesis. Primary cultured cells isolated from Wistar rat liver were incubated in an amino acid-free medium, followed by addition of Orn for 3 h. The cell lysate was subjected to immunoblotting to evaluate the phosphorylation of downstream targets of mTORC1, including p70S6K, S6, and 4EBP1. To assess the involvement of mTORC1 for the effect of Orn, the cells were pretreated with the mTOR inhibitor rapamycin before the addition of Orn and the cell lysate was subjected to immunoblotting. We next examined whether the effects of Orn were exerted in vivo. Orn was orally administered to 18 h food-deprived rats, the blood and the livers were collected at 1 and 3 h after administration for immunoblotting. Orn treatment for primary cultured cells for 3 h enhanced the phosphorylation of p70S6K, S6, and 4EBP1. In addition, rapamycin blocked the effects of Orn completely (p70S6K and S6) or partially (4EBP1). The oral administration of Orn to the rat also augmented the phosphorylation of mTORC1 downstream targets notably in S6 at 1 h. Our findings demonstrate that Orn has the potential to induce the phosphorylation of downstream targets of mTORC1 in the rat liver. This may be mediated by the augmentation of mTORC1 activity.

• The Journal of Pediatrics of Korean Medicine
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• v.13 no.2
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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.

• Clinical and Experimental Pediatrics
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• v.53 no.4
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• pp.598-602
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• 2010

Transient hyperammonemia in a newborn is an overwhelming disease manifested by hyperammonemic coma. The majority of affected newborns are premature and have mild respiratory syndrome. The diagnosis may be difficult to determine. This metabolic disorder is primarily characterized by severe hyperammonemia in the postnatal period, coma, absence of abnormal organic aciduria and normal activity of the enzymes of the urea cycle. Hyperammonemic coma may develop within 2-3 days of life, although its etiology is unknown. Laboratory studies reveal marked hyperammonemia (>$4,000{\mu}mol/L$). The degree of neurologic impairment and developmental delay in this disorder depends on the duration of hyperammonemic coma. Moreover, the infant may succumb to the disease if treatment is not started immediately and continued vigorously. Hyperammonemic coma as a medical emergency requires dialysis therapy. Here, we report a case of severe transient hyperammonemia in a preterm infant (35 week of gestation) presented with respiratory distress, seizure, and deep coma within 48 hours and required ventilatory assistance and marked elevated plasma ammonia levels. He survived with aggressive therapy including peritoneal dialysis, and was followed 2 years later without sequelae.

• Journal of the Korean Wood Science and Technology
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• v.27 no.1
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• pp.64-71
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• 1999

This study was conducted to manufacture MDF panels bonded with PF resins which provide excellent durability and dimensional stability with panels, and to identify benefits and weaknesses of using PF resins for MDF panels that have been manufactured with urea-formaldehyde (UF) resins for interior applications due to its low dimensional stability under moisture conditions. The results showed that the performance of PF-bonded MDF panels satisfied the performance requirement. A six-cycle aging test also revealed that PF-bonded MDF panels had high durability. Thickness swelling after 24 hours submersion in cold water was less than 2 percent, showing good dimentioanl stability. The identified weaknesses of using PF resins were relatively high resin content and long hot-pressing time. An acceptable resin content appeared to be 8 percent which can increase the production cost of PF-bonded MDF panels. The hot-pressing time (7 minutes) used in this study is relatively long compared to that of UF-bonded MDF panels. This result also indicates that hot-pressing process has to be optimized to control various pressing variables.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.11 no.1
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• pp.52-73
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• 2011

Since we have started organic acid analysis on Jul. 1997, we have been collecting data about organic acidemias in Korea. The data presented here is our 3 years experience in organic acid analysis. We have collected 712 samples from major university hospitals all over the Korea, large enough for relatively accurate incidence of organic acid disorders. We are using solvent extraction method with ethylacetate, MSTFA for derivatization and quantitation of 83 organic acids simultaneously. Out of 712 patients sample, 498 patients sample (70%) showed no evidence of organic acid abnormalities. Out of 214 remaining samples we have found very diverse disorders such as methylmalonic aciduria(6), propionic aciduria (10), biotinidase deficiency (6), maple syrup urine disease (3), isovaleric aciduria (4), tyrosinemia type II (4), tyrosinemia type IV (1), glutaric aciduria type I (1), glutaric aciduria type II (22), 3-methylglutaconic aciduria type I (3), 3-methylglutaconic aciduria type III (7), HMG-CoA lyase deficiency (1), hyperglyceroluria (2), cytosolic 3-ketothiolase deficiency (55), mitochondrial 3-ketothiolase deficiency (3), 3-hydroxyisobutyric aciduria (2), L-2-hydroxyglutaric aciduria (2), fumaric aciduria (2), lactic aciduria with combined elevation of pyruvate (most likely PDHC deficiency) (28), lactic aciduria without combined elevation of pyruvate (most likely mitochondrial respiratory chain disorders) (35), SCAD deficiency (3), MCAD deficiency (1), 3-methylcrotonylglycineuria (1), orotic aciduria (most likely urea cycle disorders) (7) and 2-methylbranched chain acyl-CoA dehydrogenase deficiency (1). In conclusion, though the incidence of indivisual organic acidemia is low, the incidence of overall organic acidemia is relatively high in Korea. Most of the patients showed some signs of neurological dysfunction. In other words, organic acid analysis should be included in the diagnostic work up of all neurological dysfunctions.

• Korean Journal of Agricultural Science
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• v.44 no.3
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• pp.392-399
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• 2017

The present study was conducted to investigate the effects of different dietary proteins as fraction-enriched protein, defined by Cornell net carbohydrates and protein system (CNCPS), on in vivo ruminal fermentation pattern and blood metabolites in Holstein steers fed total mixed ration (TMR) containing 17.2% crude protein. Four ruminally cannulated Holstein steers in a $4{\times}4$ Latin square design consumed TMR only (control) and TMR with rapeseed meal (AB1), soybean meal (B2), and perilla meal (B3C). Each protein was substituted for 23.0% of crude protein in TMR. Rumen digesta were taken through ruminal cannula at 1 h interval during the feeding cycle in order to analyze ruminal pH, ammonia-N, and volatile fatty acids (VFA). Plasma metabolites in blood taken via the jugular vein after the rumen digesta sampling were analyzed. Feeding perilla meal significantly (p < 0.05) decreased mean ruminal pH compared with control and the other protein feeding groups. Compared with control, feeding protein significantly (p < 0.05) increased ruminal ammonia-N concentration except for AB1. Statistically (p > 0.05) similar total VFA appeared among control and the supplemented groups. However, control, AB1, and B2 showed higher (p < 0.05) acetate concentrations than B3C, and propionate was vice versa. CNCPS fractionated protein significantly (p < 0.05) affected concentrations of albumin and total protein in blood; i.e. plasma albumin was lower for control and B2 groups than AB1 and B3C groups. Despite lack of significances (p > 0.05) in creatinine and blood urea nitrogen, AB1 and B2 groups were numerically higher than the others.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.87-90
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• 2010

Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea Hyperammonemia in the newborn often leads to severe fatal illness associated with hyperammonemic encephalopathy. Transient hyperammonemia in newborns (THAN) is characterized by self-limiting, transient hyperammonemia during the neonatal period. THAN may have favorable long-term outcomes if it is diagnosed early and appropriately managed. However, severe hyperammonemia can develop even in newborns with THAN, which may require emergent management. Here we report a case of THAN with severe hyperammonemia during the neonatal period that was successfully treated with continuous renal replacement therapy and nitrogen-scavenging medications. Our patient went on to develop normally and has not re-experienced a hyperammonemic episode until 9 months of age without the administration of a protein restricted diet or medications.