• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.12-19
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• 2019

Purpose: Isolated methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder of propionate metabolism. There are two subtypes of MMUT gene defects. $Mut^0$ represents complete loss of methylmalonyl-CoA mutase (MCM) activity while mut- is associated with residual MCM activity, which can be stimulated by hydroxocobalamin (OHCbl) supplementation. The objective of this study is to investigate cobalamin responsiveness and mutations present in Korean MMA population. Methods: We evaluated 10 MMA patients using somatic cell complementation analysis on their fibroblasts to measure MCM activity and vitamin B12 responsiveness for the optimal treatment. MMUT gene was sequenced to identify the MMA mutations. Results: For all patients, the incorporation of $[^{14}C]-propionate$ was low, and there was no response to OHCbl. The incorporation of $[^{14}C]-methyltetrahydrofolate$ and $[^{57}Co]-CNCbl$ fell within the normal range. There was adequate synthesis of methylcobalamin while the synthesis of adenosylcobalamin was low. The complementation analysis showed all patients were $mut^0$. The sequence analysis identified 12 different MMUT mutations, including 2 novel mutations, p.Gln267Ter and p.Ile697Phe, were identified. All the patients in this study had neonatal onset of symptoms, belonged to $mut^0$ complementation class, and as a result, showed no cobalamin responsiveness. Conclusion: No Korean MMA patient showed cobalamin responsiveness.

• Preventive Nutrition and Food Science
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• v.19 no.4
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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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• v.10 no.2
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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.

• The Journal of the Korea Contents Association
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• v.12 no.9
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• pp.250-256
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• 2012

Disease, such as osteopenia, osteoporosis, etc caused by reduced bone density are common to women after menopause and as the social medical cost increases due to osteoporosis fractures the medical interest in bone density reduction has increased. The bone density reduction is observed even for renal failure patients, due to their decreased ability to synthesize vitamin D which leads to bone fibrosis because of deficiency in calcium absorption. Thus renal failure patients not only suffer from kidney dysfunction, but also are exposed to complications, such as osteoporosis, due to reduced bone density. This research observed the change in bone density of patients receiving renal failure treatment and analyzed the change in bone density before and after kidney transplantations. Subjects were 214 renal failure patients at the department of nephrology Busan B General Hospital. The change in bone density was studied for subjects with and without kidney transplantation according to their age and sex. The research showed improvement or maintenance of bone density for subjects that received kidney transplantation, but showed a tendency of consistent decrease in bone density for subjects without kidney transplantation. Kidney transplantation can be considered as the best cure for renal failure patients, and this researched confirmed that bone density can be improved through kidney transplantation. Thus, this study can also be used as data for preventing complications due to renal failures.