• Child Health Nursing Research
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• v.1 no.1
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• pp.26-36
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• 1995

Children with metabolic disorders suffer from retardation and cognitive dysfunction. The task of caring for a mother may mean that she has less time and mony and more workload which may result in increased fatigue and depression and low well-being. The burden carried by mother due to the responsiblity take care of child. The descriptive study was done identify the burden in mother of children with metabolic disorders. The data was collected from November 1 to November 16, 1993. nineteen mothers were interviewed with metabolic disorders with questionnaire by mail. Burden was measured using existing tools by Zarit (1980), Montgomery(1985) . et al. Burden data was analyzed by the SPSS /pc+ program were tested using means, frequencies, Mann-Whitney, U-Wilcoxon Rank Sum Test and Kruskal-Wallis one way ANOVA The result of this study as follows : The meas score for burden was 2.8. (range from 34 to 4.95) The result of reiationship of demographic character and burden was no significant. In conclusion it was found that burden is correlated negatively to quality of life. In this study, burden was scored relatively low. Further qualitative research is needed to validats the nature of burden.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.40-51
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• 2006

Purpose: A personal computer-based system was developed for automated metabolic profiling of organic aciduria and aminoacidopathy by gas chromatography-mass spectrometry and data interpretation for the diagnosis of metabolic disorders Methods: For automatic data profiling and interpretation, we compiled retention time, two target ions and their intensity ratio for 77 organic acids and 13 amino acids metabolites. Metabolites above the cut-off values were flagged as abnormal compounds. The data interpretation was a based on combination of flagged metabolites. Diagnostic or index metabolites were categorized into three groups, "and", "or" and "NO" compiled for each disorder to improve the specificity of the diagnosis. Groups "and" and "or" comprised essential and optional compounds, respectively, to reach a specific diagnosis. Group "NO" comprised metabolites that must be absent to make a definite diagnosis. We tested this system by analyzing patients with confirmed Propionic aciduria and others. Results: In all cases, the diagnostic metabolites were identified and correct diagnosis was founded to be made among the possible disease suggested by the system. Conclusion: The study showed that the developed method could be the method of choices in rapid, sensitive and simultaneous screening for organic aciduria and amino acidopathy with this simplified automated system.

• Molecules and Cells
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• v.38 no.4
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• pp.297-303
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• 2015

Skeletal muscle insulin resistance, which increases the risk for developing various metabolic diseases, including type 2 diabetes, is a common metabolic disorder in obesity and aging. If potential treatments are to be developed to treat insulin resistance, then it is important to fully understand insulin signaling and glucose metabolism. While recent large-scale "omics" studies have revealed the acetylome to be comparable in size to the phosphorylome, the acetylation of insulin signaling proteins and its functional relevance to insulin-stimulated glucose transport and glucose metabolism is not fully understood. In this Mini Review we discuss the acetylation status of proteins involved in the insulin signaling pathway and review their potential effect on, and relevance to, insulin action in skeletal muscle.

• Molecules and Cells
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• v.38 no.8
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• pp.677-684
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• 2015

Osteoarthritis (OA) is one of the most prevalent forms of joint disorder, associated with a tremendous socioeconomic burden worldwide. Various non-genetic and lifestyle-related factors such as aging and obesity have been recognized as major risk factors for OA, underscoring the potential role for epigenetic regulation in the pathogenesis of the disease. OA-associated epigenetic aberrations have been noted at the level of DNA methylation and histone modification in chondrocytes. These epigenetic regulations are implicated in driving an imbalance between the expression of catabolic and anabolic factors, leading eventually to osteoarthritic cartilage destruction. Cellular senescence and metabolic abnormalities driven by OA-associated risk factors appear to accompany epigenetic drifts in chondrocytes. Notably, molecular events associated with metabolic disorders influence epigenetic regulation in chondrocytes, supporting the notion that OA is a metabolic disease. Here, we review accumulating evidence supporting a role for epigenetics in the regulation of cartilage homeostasis and OA pathogenesis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.2
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• pp.15-20
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• 2023

Galactosemia is an inborn error disorder of carbohydrate metabolism, caused by metabolic disturbances at various stages of the Leloir pathway. In patients with galactosemia, accurate diagnosis and appropriate care are essential to avoid complications and unnecessary treatments. And a careful differential diagnosis of the type of galactosemia is crucial. Even with an appropriate galactose-restricted diet, long-term complications may occur, especially in patients with classic galactosemia. So new treatment options are being developed. In this review, we will review the new symptoms of each subtype that have been reported recently and GALM (Galactose mutarotase) deficiency, a new form of galactosemia, and treatment policies according to recent guidelines.

• The Korean Journal of Food And Nutrition
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• v.11 no.5
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• pp.550-555
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• 1998

The purpose of this study was to investigate the effects of n-3 polyunsaturated fatty acids(PUFA) on glucose and lipids metabolism in high-fat diet rate. Rats were randomly assigned to normal, high-fat with n-3 PUFA and high-fat dietary groups. Experiments were carried out after 5 weeks feeding with prescriptive diets following 7 hrs fasting. Body weight gains tended to be higher in high-fat fed rats than normal. Blood glucose was increased (p<0.05) by high-fat diet compared with normal diet, and decreaseed (p<0.05) to normal level by n-3 PUFA. Plasma insulin level was significcantly higher (p<0.01) in high-fat diet rats than that of normal-diet rats, and also decreased (p<0.01) by n-3 PUFA. Glucose up take of soleus muscle in vitro was decreased markedly in high-fat fed rats than normal diet rats at 0, 1, 10, and 100nM insulin concentration. Therefore insulin sensitivity and responsiveness were decreased by high-fat diet. Omega-3 PUFA made a recover(p<0.01) insulin sensitivity to almost normal level, and improved (p<0.05) insulin responsiveness in some extent. In conclusion, the results suggest that metabolic disorder of glucose and insulin resistance of skeletal muscle are caused by high-fat diet and n-3 PUFA can ameliorate metabolic disorder and insulin resistance.

• Journal of The Korean Dental Society of Anesthesiology
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• v.2 no.1 s.2
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• pp.33-37
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• 2002

The oculo-cerebro-renal syndrome of Lowe (Lowe syndrome) is an X-linked recessive disorder involving the eyes, nervous systems, and kidneys. The clinical manifestation of this syndrome is characterized by congenital cataracts, glaucoma, seizure disorder, psychomotor growth retardation, hypotonia, renal tubular acidosis, aminoaciduria, rickets, and osteoporosis. We report a 5-year old boy underwent general anesthesia for the treatment of multiple dental carries. During intraoperative period, marked metabolic acidosis was noted and such acidosis was partially corrected by hyperventilation. We suggest that patients with Lowe's syndrome should be attention and treated to possible anesthetic hazards such as metabolic acidosis due to renal tubular dysfunction, rise of intraocular pressure in patient with glaucoma, the fragility of the bone structures due to rickets and osteoporosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.3
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• pp.123-134
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• 2016

Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Diagnosis of mitochondrial disease is difficult, subtle, and has many problems. It is more likely to miss the diagnosis of mitochondrial disease, especially in borderline cases where the symptoms of the disease are not severe. In this regard, urine organic acid analysis is noninvasive and can increase the sensitivity and specificity through repeated load test with few changes according to the specimen. And, It is considered to be suitable as a screening test for mitochondrial diseases because it has a great advantage of distinguishing from organic aciduria, urea cycle disorder and fatty acid oxidation disorder which may have similar symptoms. The purpose of this study was to investigate the clinical features and age distribution of mitochondrial diseases diagnosed by organic acid analysis and to establish the policy of diagnosis and treatment based on this study.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.2
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• pp.163-167
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• 2014

DiGeorge syndrome is a disorder caused by microdeletion in chromosome 22q11.2 with various abnormalities including cardiac anomaly, facial dysmorphism, thymic and parathyroid hypoplasia, cleft palate and immune dysfunction. The frequency of hypocalcemia caused by hypoparathyroidism is known to be approximately 60% of DiGeorge syndrome. It is known that the disorder mostly occurs in the neonatal period and the symptoms are improved afterwards. Herein we report a case of DiGeorge syndrome only accompanied by hypocalcemia caused by hypoparathyroidism without other abnormalities. She was first diagnosed only at the age of 22 with basal ganglia calcification that had been discovered in brain CT (Computed tomography).

• Journal of Haehwa Medicine
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• v.9 no.2
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• pp.277-292
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• 2001

1. The obesity is the aggregation of symptoms accompanied with the metabolic disorder and the increase of fatty layer accumulation by the enlargement or increase of fatty cells, which is the condition that has 20% overweight than the standard. 2. The final metabolic of fat depends on the defensive energy. The shape of fatty layer is changed by the point where is the defensive energy is replenish or not. So Goin, Bein and Yuckin is made a discriminated and there is different between Besudaeso and Herlgidaso. 3. In case of liver overacting spleen by seven emotions, we can use reinforcing the spleen and don't use depressing energy. 4. Damp, weakness of Qi(氣), weakness of spleen came from seven emotion, and social stress can occur obesity. Obesity is reason of C.V.A, dizziness, dementia, schizophrenia, etc. 5. The obesity which can occurs various adult diseases came from eating disorder and various stresses at the standpoint of western medical. This is cured by diet, kinesiatrics, operation, pharmacotherapy, etc.