X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males
X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-IXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the α-subunit of phosphorylase kinase (PHK). XLG can be divided into two sub...
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| Format: | Article |
| Language: | English |
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Elsevier
2009-10-01
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| Series: | Pediatrics and Neonatology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957209600681 |
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| author | Szu-Ta Chen Huey-Ling Chen Yen-Hsuan Ni Yin-Hsiu Chien Yung-Ming Jeng Mei-Hwei Chang Wuh-Liang Hwu |
| author_facet | Szu-Ta Chen Huey-Ling Chen Yen-Hsuan Ni Yin-Hsiu Chien Yung-Ming Jeng Mei-Hwei Chang Wuh-Liang Hwu |
| author_sort | Szu-Ta Chen |
| collection | DOAJ |
| description | X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-IXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the α-subunit of phosphorylase kinase (PHK). XLG can be divided into two subtypes: XLG-I, with a deficiency in PHK activity in peripheral blood cells and the liver; and XLG-II, with normal PHK activity in vitro. This report describes two boys who presented with hepatomegaly and abnormal liver function. Pedigree analysis revealed them to be fifth-degree relatives, with the disease transmitted through undiagnosed grandfathers. Liver histology confirmed GSD diagnosis, and both cases had a deficiency in PHK activity in red blood cells and liver tissues. This is the first report of XLG-I in the ethnic-Chinese population in Taiwan. This report indicates that XLG may be undiagnosed or underestimated. A correct diagnosis is necessary for proper management and genetic counseling. |
| format | Article |
| id | doaj-art-b18e026e34554cc88bd6aedbc506f097 |
| institution | OA Journals |
| issn | 1875-9572 |
| language | English |
| publishDate | 2009-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj-art-b18e026e34554cc88bd6aedbc506f0972025-08-20T02:02:39ZengElsevierPediatrics and Neonatology1875-95722009-10-0150523023310.1016/S1875-9572(09)60068-1X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed MalesSzu-Ta Chen0Huey-Ling Chen1Yen-Hsuan Ni2Yin-Hsiu Chien3Yung-Ming Jeng4Mei-Hwei Chang5Wuh-Liang Hwu6Department of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Pathology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, TaiwanX-linked liver glycogenosis (XLG), also known as glycogen storage disease type-IXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the α-subunit of phosphorylase kinase (PHK). XLG can be divided into two subtypes: XLG-I, with a deficiency in PHK activity in peripheral blood cells and the liver; and XLG-II, with normal PHK activity in vitro. This report describes two boys who presented with hepatomegaly and abnormal liver function. Pedigree analysis revealed them to be fifth-degree relatives, with the disease transmitted through undiagnosed grandfathers. Liver histology confirmed GSD diagnosis, and both cases had a deficiency in PHK activity in red blood cells and liver tissues. This is the first report of XLG-I in the ethnic-Chinese population in Taiwan. This report indicates that XLG may be undiagnosed or underestimated. A correct diagnosis is necessary for proper management and genetic counseling.http://www.sciencedirect.com/science/article/pii/S1875957209600681glycogen storage diseasehepatomegalyphosphorylase kinaseX-linked liver glycogenosis (XLG) |
| spellingShingle | Szu-Ta Chen Huey-Ling Chen Yen-Hsuan Ni Yin-Hsiu Chien Yung-Ming Jeng Mei-Hwei Chang Wuh-Liang Hwu X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males Pediatrics and Neonatology glycogen storage disease hepatomegaly phosphorylase kinase X-linked liver glycogenosis (XLG) |
| title | X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males |
| title_full | X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males |
| title_fullStr | X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males |
| title_full_unstemmed | X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males |
| title_short | X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males |
| title_sort | x linked liver glycogenosis in a taiwanese family transmission from undiagnosed males |
| topic | glycogen storage disease hepatomegaly phosphorylase kinase X-linked liver glycogenosis (XLG) |
| url | http://www.sciencedirect.com/science/article/pii/S1875957209600681 |
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