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KMID : 1038820150180020138
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Pediatric Gastroenterology, Hepatology & Nutrition
2015 Volume.18 No. 2 p.138 ~ p.143
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Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly
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Kim Jung-Ah
Kim Ja-Hye
Lee Beom-Hee
Kim Gu-Hwan
Shin Yoon-S
Yoo Han-Wook
Kim Kyung-Mo
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Abstract
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Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually manifest recurrent ketotic hypoglycemia with growth delay, but some may present simple hepatomegaly. Although GSD IX is one of the most common causes of GSDs, its biochemical and genetic diagnosis has been problematic due to its rarity, phenotypic overlap with other types of GSDs, and genetic heterogeneities. In our report, a 22-month-old boy with GSD IX is described. No other manifestations were evident except for hepatomegaly. His growth and development also have been proceeding normally. Diagnosed was made by histologic examination, an enzyme assay, and genetic testing with known c.3210_3212del (p.Arg1070del) mutation in PHKA2 gene.
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KEYWORD
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Glycogen storage disease, Glycogen storage disease type IX, Phosphorylase b kinase 2, Phosphorylase kinase, Hepatomegaly
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