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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제18권 제2호
- 발행연도
- 2015.1
- 수록면
- 138 - 143 (6page)
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초록· 키워드
오류제보하기
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.
목차
등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Bak H / 2001 / Adult-onset exercise intolerance due to phosphorylase b kinase deficiency / J Clin Neurosci 8 : 286 ~ 287
Bali DS / 2014 / Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene / Mol Genet Metab 111 : 309 ~ 31
Beauchamp NJ / 2007 / High frequency of missense mutations in glycogen storage disease type VI / J Inherit Metab Dis 30 : 722 ~ 734
Brushia RJ / 1999 / Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure / Front Biosci 4 : D618 ~ 641
Crushell E / 2010 / Glycogen storage disease type III in the Irish population / J Inherit Metab Dis 33 (Suppl 3) : S215 ~ 218
Bali DS / 2014 / Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene / Mol Genet Metab 111 : 309 ~ 31
Beauchamp NJ / 2007 / High frequency of missense mutations in glycogen storage disease type VI / J Inherit Metab Dis 30 : 722 ~ 734
Brushia RJ / 1999 / Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure / Front Biosci 4 : D618 ~ 641
Crushell E / 2010 / Glycogen storage disease type III in the Irish population / J Inherit Metab Dis 33 (Suppl 3) : S215 ~ 218
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