• 대한유전성대사질환학회지
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• 제5권1호
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• pp.108-115
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• 2005

Inherited metabolic diseases (IMD) comprise a large class of genetic diseases involving disorders of metabolism. The majorities are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. Because of the multiplicity of conditions, many different diagnostic tests are used for screening of IMD. Molecular genetic diagnosis is the detection of pathogenic mutations in DNA and/or RNA samples and is becoming a much more common practice in medicine today. The purpose of molecular genetic testing in IMD includes diagnostic testing, pre-symptomatic testing, carrier screening, prenatal diagnosis, preimplantation testing, and population screening. However, because of the complexity, difficulty in interpreting the result, and the ethical considerations, an understanding of technical, conceptual, and practical aspects of molecular genetic diagnosis is mandatory.

• IMMUNE NETWORK
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• 제22권1호
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• pp.13.1-13.14
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• 2022

Chronic inflammation plays a critical role in the development of obesity-associated metabolic disorders such as insulin resistance. Obesity alters the microenvironment of adipose tissue and the intestines from anti-inflammatory to pro-inflammatory, which promotes low grade systemic inflammation and insulin resistance in obese mice. Various T cell subsets either help maintain metabolic homeostasis in healthy states or contribute to obesity-associated metabolic syndromes. In this review, we will discuss the T cell subsets that reside in adipose tissue and intestines and their role in the development of obesity-induced systemic inflammation.

• 대한유전성대사질환학회지
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• 제16권2호
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• pp.62-69
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• 2016

Newborn screening of some urea cycle disorders has little benefits because of early severe symptoms before the result, low sensitivity (especially hypocitrullinemia) and poor prognosis. But in case of citrullinemia, citrin deficiency and argininosuccinic aciduria diagnosed as elevated citrulline, newborn screening is helpful for early diagnosis and treatment before the symptom. Distinction between the clinical forms of these diseases is based on clinical findings and biochemical results, however, they may not be clearcut. Treatment is different from each other, so exact diagnosis is essential. Here, the diagnostic algorithm for elevated citrulline after tandem mass screening has been proposed. Minimizing total process time from sampling to report of the results is important in Korea for diagnosis and treatment of these disorders.

• Molecules and Cells
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• 제43권8호
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• pp.686-693
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• 2020

Autophagy is an intracellular degradation system that breaks down damaged organelles or damaged proteins using intracellular lysosomes. Recent studies have also revealed that various forms of selective autophagy play specific physiological roles under different cellular conditions. Lipid droplets, which are mainly found in adipocytes and hepatocytes, are dynamic organelles that store triglycerides and are critical to health. Lipophagy is a type of selective autophagy that targets lipid droplets and is an essential mechanism for maintaining homeostasis of lipid droplets. However, while processes that regulate lipid droplets such as lipolysis and lipogenesis are relatively well known, the major factors that control lipophagy remain largely unknown. This review introduces the underlying mechanism by which lipophagy is induced and regulated, and the current findings on the major roles of lipophagy in physiological and pathological status. These studies will provide basic insights into the function of lipophagy and may be useful for the development of new therapies for lipophagy dysfunction-related diseases.

• 대한약학회:학술대회논문집
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• 대한약학회 2003년도 Proceedings of the Convention of the Pharmaceutical Society of Korea Vol.2-2
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• pp.218.2-218.2
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• 2003

An efficient method is described for the enantioseparation of urinary amino acids to determine their absolute configurations. It involves two-phase extractive ethoxycarbonylation in alkaline aqueous solution with subsequent extraction after acidification. The resulting derivatives of amino acids are converted to volatile diastereomeric esters or amides for the direct analysis by gas chromatography (GC) on achiral dual-columns with different polarities. The present method was applied to urine specimens from patients with inherited metabolic disorders. In this study, the usefulness for the chiral separation of diagnostic amino acids will be discussed.

• 대한유전성대사질환학회지
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• 제22권2호
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• pp.46-52
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• 2022

Inborn errors of metabolism (IEM) are very rare and genetically transmitted diseases and have man y different symptoms related with multisystemic involvement. More rarely, endocrinopathies can be an early and first symptom of IEM, but presents with signs of later complications in adolescent or adulthood. The mechanisms of endocrine dysfunction in IEM are poorly understood. Hypogonadotropic hypogonadism is common in hemochromatosis, adrenoleukodystrophy, galactosemia, and glycogen storage disease. Many girls with classic galactosemia are at high risk for premature ovarian insufficiency (POI), despite an early diagnosis and good control. Mitochondrial diseases are multisystem disorders and are characterized by hypo- and hypergonadotrophic hypogonadism, thyroid dysfunction and insulin dysregulation. Glycogen storage disorders (GSDs), especially type Ia, Ib, III, V are assocciated with frequent hypoglycemic events. IEM is a growing field and is not yet well recognized despite its consequences for growth, bone metabolism and fertility. For this reason, clinicians should be aware of these diagnoses and potential endocrine dysfunction.

• 대한지역사회영양학회:학술대회논문집
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• 대한지역사회영양학회 2002년도 추계학술대회 및 공청회
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• pp.907-911
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• 2002

• Clinical and Experimental Pediatrics
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• 제49권11호
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• pp.1152-1157
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• 2006

Inherited metabolic disease is rare disorders that show symptoms mainly in pediatric age and early treatment is important for preventing complications of the disease. Recent development in molecular and biochemical techniques help clinicians with proper diagnosis of patients, however, many of the disease still remain lack of effective therapeutic strategies. Better understanding on biochemical and molecular basis of pathogenesis of the disease combined with advanced medical care would provide new sight on the disease that can also improve the quality of life and long-term prognosis of patients. Traditionally, there are several modalities in the treatment of metabolic diseases depend on the biochemical basis of the disease such as diet restriction, removing or blocking the production of toxic metabolites, and stimulating residual enzyme activity. The inherited metabolic disease is not familiar for many clinicians because the diagnosis is troublesome, treatment is complicated and prognosis may not as good as expected in other diseases. Recently, new therapeutic regimens have been introduced that can significantly improve the medical care of patients with metabolic disease. Enzyme replacement therapy has showed promising efficacy for lysosomal storage disease, bone marrow transplantation is effective in some disease and gene therapy has been trying for different diseases. The new trials for treatment of the disease will give us promising insight on the disease and most clinicians should have more interest in medical progress of the metabolic disease.

• Nutrition Research and Practice
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• 제14권3호
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• pp.252-261
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• 2020

BACKGROUND/OBJECTIVES: Although previous experimental studies reported the health benefits of foods rich in phytochemicals, few epidemiologic studies have investigated the associations between phytochemicals and metabolic disorders. This study aimed to calculate a phytochemical index (PI) and examine its association with metabolic syndrome in the Korean population. SUBJECTS/METHODS: Data of Korean adults aged ≥ 19 years who participated in the 2008-2016 Korea National Health and Nutrition Examination Surveys were analyzed. The PI was calculated using 24-hour intake recall data regarding whole grains, vegetables, fruits, legumes, nuts and seeds, and soybeans and soy products. Demographic and lifestyle data were obtained using self-administered questionnaires. A multivariable logistic regression was performed to calculate the adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for the prevalence of metabolic syndrome and its components according to PI quintiles. RESULTS: Overall, 31,319 adults were evaluated. Compared with men, women had a higher median PI level (9.96 vs. 13.63) and significantly higher caloric intake levels from most PI components (P < 0.05), except for soy products. After adjusting for multiple confounding variables, participants in the highest PI quintile had significantly lower prevalences of abdominal obesity (OR: 0.90, 95% CI: 0.81-0.99), hyperglycemia (OR: 0.83, 95% CI: 0.74-0.94), high blood pressure (OR: 0.82, 95% CI: 0.73-0.93), hypertriglyceridemia (OR: 0.84, 95% CI: 0.75-0.94), and metabolic syndrome (OR: 0.78, 95% CI: 0.69-0.88). CONCLUSIONS: Higher intakes of phytochemical-rich foods are associated with a lower prevalence of metabolic dysregulation and consequently, cardiometabolic diseases.

• Clinical and Experimental Reproductive Medicine
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• 제42권3호
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• pp.86-93
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• 2015

Polycystic ovary syndrome (PCOS) is one of the most common hormonal endocrine disorders in women of reproductive age. It consists of a heterogeneous collection of signs and symptoms that together form a disorder spectrum. The diagnosis of PCOS is principally based on clinical and physical findings. The extent of metabolic abnormalities in women with PCOS varies with phenotype, body weight, age, and ethnicity. For general population, the prevalence of hyperandrogenism and oligomenorrhea decreases with age, while complications such as insulin resistance and other metabolic disturbances increase with age. Obese women with PCOS have a higher risk of developing oligomenorrhea, amenorrhea, hyperandrogenemia, insulin resistance, and lower luteinizing hormone (LH) to follicle stimulation hormone (FSH) ratios than non-obese women with PCOS. The LH to FSH ratio is a valuable diagnostic tool in evaluating Taiwanese women with PCOS, especially in the diagnosis of oligomenorrhea. Overweight/obesity is the major determinant of cardiovascular and metabolic disturbances in women of reproductive age.