- Case Report
- A case of simultaneously identified glycogen storage disease and
mucopolysaccharidosis
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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
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Clin Exp Pediatr. 2008;51(6):650-654. Published online June 15, 2008
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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... |
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- A Case of Hereditary Fructose Intolerance
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Eun Kyeong Kang, Hye Ran Yang, Jeong Kee Seo, Sun Hoan Bai, Joo Young Jeong, Jae Sung Ko, Il Soo Ha, Jeong Han Song, Kyeong Ae Wi, Yoon Sook Shin
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Clin Exp Pediatr. 2002;45(1):120-124. Published online January 15, 2002
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Hereditary fructose intolerance(HFI) is an autosomal recessive disease caused by catalytic deficiency
of aldolase B in which affected homozygotes develop hypoglycemia and abdominal symptoms
after taking foods containing fructose. Chronic exposure to fructose may lead to progressive
hepatic injury, renal injury, growth retardation, and ultimately to liver and kidney failure. Herein,
we report a case of HFI with presentation of episodic vomiting, diarrhea, cold... |
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