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Case Report
A case of simultaneously identified glycogen storage disease and mucopolysaccharidosis
Ju Young Lee, Jeong Ok Shim, Hye Ran Yang, Ju Young Chang, Choong Ho Shin, Jae Sung Ko, Jeong Kee Seo, Woo Sun Kim, Gyeong Hoon Kang, Jeong Han Song, Jong Won Kim
Clin Exp Pediatr. 2008;51(6):650-654.   Published online June 15, 2008
Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which...
Original Article
Clinical Findings of Genotypes in Korean Patients with Glycogen Storage Disease Type Ia
Jae Sung Ko, Hye Ran Yang, Jong Won Kim, Jeong Kee Seo
Clin Exp Pediatr. 2005;48(8):877-880.   Published online August 15, 2005
Purpose : Glycogen storage disease type Ia(GSD Ia) is an autosomal recessive disorder caused by the deficiency of glucose-6-phosphatase(G6Pase). The aim of the study was to investigate the spectrum of G6Pase gene mutations and relationship between genotype and clinical findings in Korean patients with GSD Ia. Methods : Genomic DNA was extracted from peripheral leukocytes of 20 patients with GSD...
Clinical Characteristics and Genetic Analysis of Prader-Willi Syndrome
Ji Eun Lee, Kwang Bin Moon, Jong Hee Hwang, Eun Kyung Kwon, Sun Hee Kim, Jong Won Kim, Dong Kyu Jin
Clin Exp Pediatr. 2002;45(9):1126-1133.   Published online September 15, 2002
Purpose : Prader-Willi syndrome(PWS) is a complex disorder affecting multisystems with characteristic clinical features. Its genetic basis is an expression defect in the paternally derived chromosome 15q11-q13. We analyzed the clinical features and genetic basis of PWS patients for early detection and treatment. Methods : We retrospectively studied 24 patients with PWS in Department of Pediatrics, Samsung Medical Center, from...
Case Report
A Case of Rett Syndrome with MECP2 Gene Mutation
Jin Kyung Kim, Chang Seok Ki, Jong Won Kim
Clin Exp Pediatr. 2002;45(4):540-544.   Published online April 15, 2002
Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by...
Zellweger Syndrome : First Confirmed Neonatal Case in Korea
Sung Sin Kim, Yun Hwa An, Yun Sil Chang, Dong Kyu Jin, Won Soon Park, Moon Hang Lee, Jong Won Kim, Hye Kyoung Yoon, Bo Kyoung Kim
Clin Exp Pediatr. 2001;44(6):694-698.   Published online June 15, 2001
We describe below a case of Zellweger syndrome case with facial dysmorphism, profound hypotonia, and hepatomegaly. He died at the age of 2 months. Zellweger syndrome is a disease marked by the absence of hepatic and renal peroxisomes. Because peroxisomes have many vital anabolic and catabolic functions within the cell, their absence results in profound cellular dysfunction. A biochemical study...
Original Article
A Genetic Linkage Study of Wilson Disease in Korean Families
Jong Won Kim, Sang In Kim, Jeong Kee Seo
Clin Exp Pediatr. 1993;36(11):1596-1612.   Published online November 15, 1993
Wilson disease gene (WND) locus is presumed to be located in chromosome 13q. There are studies on the clinical heterogeneities and variations between ethnic groups in Europe, North America, and the Middle East and it requites the study of another ethnic group, especially Asian population for the confirmation. This study was an analysis of restriction fragment length polymorphism of the Wilson's...