• 대한유전성대사질환학회지
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• 제19권1호
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• pp.12-19
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• 2019

목적: 코발라민(Cobalamin)과 동반되지 않은 독립형 메틸말론산혈증(methylmalonic acidemia)은 프로피오네이트 대사 질환으로 상염색체 열성으로 유전된다. Methylmalonyl-CoA mutase (MCM)효소발현에 관련된 유전자인 MMUT에는 유전자 결함에는 두 가지 아형이 있다. $Mut^0$은 효소 활성도가 완전히 없는 것이고 Mut-형은 효소활성도가 저하되어 있지만 hydroxocobalamin (OHCbl) 보충으로 잔여효소의 활성도가 증가될 수 있는 형이다. 본 연구의 목적은 한국인 MMA 환아에서 코발라민의 반응성과 돌연변이를 조사하는 것이다. 방법: 최적의 치료를 위해 MCM 활성도와 비타민 $B_{12}$ 반응성을 측정하기 위하여 섬유 아세포의 체세포 보완 분석을 사용하여 10명의 MMA 환자를 평가했다. MMUT 유전자는 MMA 돌연변이의 염기서열을 확인하였다. 결과: $^{14}C-propionate$의 첨가는 OHCbl에 반응이 없는 모든 환자에서 낮게 나타났다. $^{14}C-methyltetrahydrofolate$와 $^{57}Co-cyanocobalamin$의 투여 후 모두 정상범위 내에 있었다. 아데노 실 코발라민의 합성은 낮지 만 메틸 코발라민의 합성은 적절하였다. 보완 분석 결과 모든 환자들은 $mut^0$ 유형이었다. DNA 염기서열분석결과에서 2개의 새로운 돌연변이, p.Gln267Ter 및 p.Ile697Phe를 포함하여 12개의 상이한 MMUT 돌연변이를 확인하였다. 신생아에서 증상이 나타나며 $mut^0$ 형인 MMA 환자 10례 모두에서 코발라민 반응을 보이지 않았다. 결론: 본 연구에서는 모든 한국 MMA 환자에서 코발라민 반응을 시험한 결과 음성이었다.

• Preventive Nutrition and Food Science
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• 제19권4호
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• pp.247-260
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• 2014

The impact of folate on health and disease, particularly pregnancy complications and congenital malformations, has been extensively studied. Mandatory folic acid fortification therefore has been implemented in multiple countries, resulting in a reduction in the occurrence of neural tube defects. However, emerging evidence suggests increased folate intake may also be associated with unexpected adverse effects. This literature review focuses on contemporary issues of concern, and possible underlying mechanisms as well as giving consideration the future direction of mandatory folic acid fortification. Folate fortification has been associated with the presence of unmetabolized folic acid (PteGlu) in blood, masking of vitamin $B_{12}$ deficiency, increased dosage for anti-cancer medication, photo-catalysis of PteGlu leading to potential genotoxicity, and a role in the pathoaetiology of colorectal cancer. Increased folate intake has also been associated with twin birth and insulin resistance in offspring, and altered epigenetic mechanisms of inheritance. Although limited data exists to elucidate potential mechanisms underlying these issues, elevated blood folate level due to the excess use of PteGlu without consideration of an individual's specific phenotypic traits (e.g. genetic background and undiagnosed disease) may be relevant. Additionally, the accumulation of unmetabolized PteGlu may lead to inhibition of dihydrofolate reductase and other enzymes. Concerns notwithstanding, folic acid fortification has achieved enormous advances in public health. It therefore seems prudent to target and carefully monitor high risk groups, and to conduct well focused further research to better understand and to minimize any risk of mandatory folic acid fortification.

• Journal of Nutrition and Health
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• 제10권2호
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• pp.59-70
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• 1977

This study was designed to evaluate the changes and improvements in the Korean diet during the last thirty years (since independence in 1945), and to make recommendations for the improvement of their nutritional status, consequently contributing to the physical and mental welfare of the Korean people. The results and recommendations are as follows: 1. The total calorie and carbohydrate intake decreased by $8{\sim}12%$ in the 1970's, as compared with the 1940's and the 1950's. 2. The intake of calcium and vitamiu A increased $30{\sim}50%$ and $20{\sim}60%$ respectively in the 1960's and 1970's as compared with the 1940,s. But this intake level is still lower than the RDA values. 3. The vitamin C intake was somewhat higher in the mountainous and farming areas than in urban areas. 4. In the 1970's, the decrease of untriend intake due to seasonal variation was marked especially for protein, niacin, vitamin $B_1$, and vitamin C. 5. The consumption of protein foods (meats and legumes) increased in an amount of $15{\sim}36g$ per day. There was a marked increase in the intake of meat in farming areas and of milk in urban areas in the 1970's. This increased intake of animal proteins is a very desirable dietary change. 6. The cereal consumption was lowest in urban areal, but there was a general decrease in the intake of the cereal group in the entire area in the 1970's. For the farmers, the intake of cereal food decreased most, from 750 g to 576 g, but cereals still composed a high proportion of the entire diet. 7. Fruits and vegetables showed the highest intake for the urban people, as expected. For the whole area, this food group showed an increase of 8.7% in the 1970's, as compared with the 1960's. 8. The gradual ihcrease in the intake of the fats and oil group was a desirable dietary change. but the absolute amount was too low. 9. A 7% increase in height and a 9% incrrase in weight for growing children and adolescents was observed in the 1970's as compared with the 1940's, but several kinds of deficiency diseases, such as nutritional anemia and dental caries were still apparent in many areas. 10. To improve cur food life and to cope with food shortages faced in Korea, an efficient and nationwide nutrition education program should be implemented. This would maximize efficiency of intake from the limited food sources for a balanced diet. 11. As it is of utmost importance to provide growing children with a desirable physical, sccial mental, and especially nutritional environment, a well-planned and organized school feeding program should be practiced widely and efficiently. 12. Young mothers and pregnant women should be educated on the importance of their children's nutrition, especially for the critical fetal and infancy periods. 13. More thorough and continuous nutritional survey studies on the changes in dietary patterns for the entire nation should be pursued, evaluated and documented. This would Provide a good information guide for future nutritional study programs. 14. It is the nutritionistist's strong desire that national leaders, especially decision makers recognize the fact that improvement of the nutritional status of the People is one of the most economic and preventative ways of improving their physical and mental health. This is closely related to the economic development and strength of the nation.

• 한국콘텐츠학회논문지
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• 제12권9호
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• pp.250-256
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• 2012

골밀도 감소에 의해서 발생되는 골감소증, 골다공증 등은 폐경 후 여성에게 유병률이 높은 질환이며, 골다공증 골절에 따른 사회적 의료비 상승으로 의학적 관심이 급증하고 있다. 신부전환자는 체내에 비타민D 합성 능력이 저하되어 칼슘 흡수가 감소하여 뼈의 섬유화가 발생되고, 골밀도가 감소하는 현상이 나타난다. 따라서 신부전환자는 신장 기능 장애로 그치지 않고, 골다공증과 같은 골밀도 감소에 따른 합병증에 노출되어 있다. 본 연구에서는 치료 중에 있는 신부전환자들의 골밀도 변화를 관찰하였고, 신장이식 전후에서 발견되는 골밀도 변화를 분석하였다. 조사대상은 부산 B종합병원 신장내과 내원환자 중 신부전환자 214명을 신장이식의 유무에 따라 골밀도의 변화를 세대별, 성별로 나누어 분석했다. 분석결과 신장이식 환자군에서는 골밀도가 유지되거나 개선되었지만, 비신장이식 환자군에서는 골밀도가 꾸준히 나빠지는 결과를 보였다. 신부전환자는 신장이식을 받는 것이 최선의 치료책으로 사료되며, 신장이식을 통해서 골밀도의 개선이 가능함을 확인하였다. 이는 추가적으로 예상되는 합병증을 예방하기 위한 자료로도 활용할 수 있다.