• 대한유전성대사질환학회지
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• 제15권3호
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• pp.160-164
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• 2015

Hunter syndrome(Mucopolysaccharidosis type II, MPS type II) is an X-linked disorder of glycosaminoglycans (GAGs) metabolism caused by an iduronate-2-sulfatase (IDS2) deficiency. A 24-month-old boy visited the department of pediatrics with the chief compliant of chronic purulent rhinorrhea beginning at age one. He had a history of repeated acute otitis media and chronic rhinitis. On physical examination he had a coarse face, enlarged tongue, distended abdomen, joint stiffness, and Mongolian spots at his first visit. The urine GAGs level was elevated at 66.10 mg/mmolCr (reference range, <11.1) and iduronate-2-sulfatase activity in leukocyte was decreased at 0.21 nmol/mg protein/hr (reference range, 18.7-57). Finally with an IDS gene mutational analysis, recombinant known mutation between intron 7 and distal of exon 3 in IDS2 was detected. Recombinant iduronate-2-sulfatase therapy was started without any infusion related reactions. The author highlights the importance of suspecting Hunter syndrome when pediatric patients visit with chronic purulent rhinorrhea which is a common cause of hospital visits for infants and children.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제16권3호
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• pp.195-199
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• 2013

Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and metabolic alkalosis, CLD should be considered in the differential diagnosis. The severity of CLD varies, but early detection and early therapy can prevent complications including growth failure. We report a case of dizygotic twins affected by CLD who had been born to non-consanguineous parents. Both of them showed growth failure, but one of the twins experienced worse clinical course. He showed developmental delay, along with dehydration and severe electrolyte imbalance. He was diagnosed with CLD first at 6-month age, and then the other one was also diagnosed with CLD.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제20권1호
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• pp.61-64
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• 2017

Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, "the odor of sweaty feet," abdominal pain, vomiting, feeding intolerance, shock and coma. Recurrent acute pancreatitis associated with IVA have been rarely reported. Herein; we report a child who admitted with recurrent acute pancreatic attacks and had the final diagnosis of IVA. Mutation analysis revealed a novel homozygous mutation of (p.E117K [c.349G>A]) in the IVA gene. Organic acidemias must kept in mind in the differential diagnosis of recurrent acute pancreatic attacks in children.

• 대한유전성대사질환학회지
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• 제13권1호
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• pp.30-36
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• 2013

6-pyruvoyltetrahydropterin synthase (PTPS) deficiency is autosomal recessive disorder and the most common type of tetrahydrobiopterin (BH4) deficiency. It is caused by deficiency of PTPS, a cofactor involved in the biosynthesis of BH4 from guanosine triphosphate (GTP). Unlike classical phenylketonuria, which needs restriction of dietary phenylalanine for whole life, BH4 deficiency is treated by tetrahydrobiopterin, levodopa, and 5-hydroxytryptophan replacement. So it is important to make accurate diagnosis and initiate treatment as soon as possible for a better prognosis. There is no retrospective study of Korean patients undergoing long-term treatment for PTPS deficiency. We report 9 Korean patients with PTPS deficiency and their laboratory findings including BH4 loading tests, urine pterin tests, genotypes, dihydropteridine reductase (DHPR) activities and clinical manifestations including medication and developmental delay existence.

• Molecules and Cells
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• 제37권6호
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• pp.441-448
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• 2014

Inflammasomes are specialized signaling platforms critical for the regulation of innate immune and inflammatory responses. Various NLR family members (i.e., NLRP1, NLRP3, and IPAF) as well as the PYHIN family member AIM2 can form inflammasome complexes. These multiprotein complexes activate inflammatory caspases (i.e., caspase-1) which in turn catalyze the maturation of select pro-inflammatory cytokines, including interleukin (IL)-$1{\beta}$ and IL-18. Activation of the NLRP3 inflammasome typically requires two initiating signals. Toll-like receptor (TLR) and NOD-like receptor (NLR) agonists activate the transcription of pro-inflammatory cytokine genes through an NF-${\kappa}B$-dependent priming signal. Following exposure to extracellular ATP, stimulation of the P2X purinoreceptor-7 ($P2X_7R$), which results in $K^+$ efflux, is required as a second signal for NLRP3 inflammasome formation. Alternative models for NLRP3 activation involve lysosomal destabilization and phagocytic NADPH oxidase and /or mitochondria-dependent reactive oxygen species (ROS) production. In this review we examine regulatory mechanisms that activate the NLRP3 inflammasome pathway. Furthermore, we discuss the potential roles of NLRP3 in metabolic and cognitive diseases, including obesity, type 2 diabetes mellitus, Alzheimer's disease, and major depressive disorder. Novel therapeutics involving inflammasome activation may result in possible clinical applications in the near future.

• Childhood Kidney Diseases
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• 제24권2호
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• pp.115-119
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• 2020

Distal renal tubular acidosis (dRTA) is a rare renal tubular disorder characterized by normal anion gap metabolic acidosis, hypokalemia, and high urine pH. It can be inherited or acquired. In untreated pediatric patients with dRTA, rickets and growth retardation are common. We report the case of a 12-year-old Lao girl who presented with typical clinical features of dRTA with severe bone deformities that developed after a bed-ridden state due to a bicycle accident at the age of 8 years. Initial laboratory tests revealed metabolic acidosis with a normal anion gap, hypokalemia, and alkali urine. Renal ultrasonography revealed bilateral medullary nephrocalcinosis. Whole exome sequencing revealed no pathogenic mutations. After treatment with oral alkali, potassium, and vitamin D, she could walk and run. Later, she underwent corrective orthopedic surgeries for bony deformities. Thus, in pediatric dRTA patients, despite severe symptoms remaining untreated, accurate diagnosis and proper management can improve quality of life.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.23-26
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• 2017

Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes MCCC1 or MCCC2 cause a defect in the enzyme 3-methylcrotonyl-CoA carboxylase, with MCCC2 mutations being the form predominantly reported in Korea. The majority of infants identified by neonatal screening usually appear to be asymptomatic and remain healthy; however, some patients have been reported to exhibit mild to severe metabolic decompensation and neurologic manifestations. Here we report the clinical features of a patient with asymptomatic 3-methylcrotonyl-CoA carboxylase deficiency and novel heterozygous MCCC1 mutations.

• 한국식품영양학회지
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• 제30권4호
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• pp.830-840
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• 2017

Excessive body weight gain during the growth period of early life may predispose individuals towards obesity and metabolic disorder in later life. We investigated the possibility of using the food efficiency ratio as an early indicator for predicting susceptibility to diet-induced obesity and insulin resistance. Four-week-old, prepubertal, male Sprague Dawley rats were divided into obesity-prone and obesity-resistant groups based on food efficiency ratio values after five days on a high-fat diet. Metabolic parameters measured after 2, 6, and 10 weeks, and specific phenotypes were compared with each group. Obesity-prone rats had higher increases in body weight and fat mass compared to obesity-resistant rats over the study period. Obesity-prone rats became glucose intolerant early in this study and remained so throughout the experimental period, with increases in fat weight and leptin levels occurring first, followed by increases in insulin level. Gluconeogenesis and insulin resistance significantly increased in obesity-prone groups in which activities of glucose-6-phosphatase and phosphoenolpyruvate carboxykinase were increased and glucokinase activity decreased. Higher food efficiency ratio at an early age was closely correlated with body fat accumulation, hyperleptinemia, and hyperinsulinemia of middle and elderly age. We suggest a high food efficiency ratio in prepubertal subjects may be a useful predictor of future obesity and insulin resistance.

• Natural Product Sciences
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• 제28권4호
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• pp.161-167
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• 2022

Obesity is a complex metabolic disorder that increases the risk for type 2 diabetes, hyperlipidemia, hypertension, and atherosclerosis. In this study, we evaluated the anti-obesity effects of Nelumbo nucifera leaf (NL) extract in 3T3-L1 adipocytes and obese db/db mice. NL extract among various parts (leaf, seed, and root) of N. nucifera most effectively reduced adipogenesis via inhibiting CCAAT enhancer binding protein α (C/EBPα) and peroxisome proliferator activated receptor γ (PPARγ) expression in 3T3-L1 adipocytes. The addition of NL extract enhanced the protein expression of uncoupling protein 2 (UCP2) as compared to untreated 3T3-L1 adipocytes. The oral administration of NL extract (100 mg/kg BW) significantly reduced food efficacy ratio, body weight, and face or total cholesterol level in obese db /db mice. Also, administration of NL extract significantly decreased adipocyte size and C/EBPα or PPARγ expression in the adipose tissues as compared with control (obese db/db mice). Therefore, our results suggest that NL extract among various parts of N. nucifera could be used as a functional food ingredient for the prevention and treatment of metabolic diseases including obesity and diabetes.

• 한국콘텐츠학회논문지
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• 제22권3호
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• pp.354-360
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• 2022

대사성 질환은 국내의 경우 유병률이 26%에 이르는 질환으로 복부비만, 고혈압, 공복혈당장애, 고중성지방, 낮은 HDL 콜레스테롤 5가지 상태 중 3가지를 동시에 가진 상태를 말한다. 본 논문은 농촌진흥청의 소비자패널 데이터와 건강보험공단의 진료 데이터를 연계하여 식품 소비 특성을 통해 대사성 질환자군과 대조군으로 나누는 분류 모델을 생성하고 차이를 비교하고자 한다. 기존의 국내외에서 연구된 많은 대사성 질환과 식품 소비 특성 관련 연구는 특정 식품군이나 특정 성분의 질환 상관성 연구이며, 본 논문은 일반 식사에서 포함하는 모든 식품군을 고려한 로지스틱 회귀를 이용한 분류 모델, 의사결정나무 기반 분류 모델, XGBoost를 활용한 분류 모델을 생성하였다. 세 가지 모델 중 정확도가 높은 모델은 XGBoost 분류 모델이지만, 정확도가 0.7 미만으로 높지 않았다. 향후 연구로 환자군의 식품 소비 관찰 기간을 5년 이상으로 확대하고 섭취한 식품을 영양적 특성으로 변환한 후 대사성 질환 분류 모델 연구가 필요하다.