https://scholars.lib.ntu.edu.tw/handle/123456789/537028
Title: | X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males | Authors: | Chen S.-T. HUEY-LING CHEN YEN-HSUAN NI YIN-HSIU CHIEN YUNG-MING JENG MEI-HWEI CHANG WUH-LIANG HWU |
Issue Date: | 2009 | Journal Volume: | 50 | Journal Issue: | 5 | Start page/Pages: | 230-233 | Source: | Pediatrics and Neonatology | Abstract: | 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. ? 2009 Taiwan Pediatric Association. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-70449730793&doi=10.1016%2fS1875-9572%2809%2960068-1&partnerID=40&md5=74fe6ffb9e77ffd4913e926047429784 https://scholars.lib.ntu.edu.tw/handle/123456789/537028 |
ISSN: | 1875-9572 | DOI: | 10.1016/S1875-9572(09)60068-1 | SDG/Keyword: | phosphorylase kinase; phosphorylase kinase; abdominal distension; article; case report; child; echography; family; family history; gene mutation; glycogen storage disease; growth retardation; hepatomegaly; histopathology; human; human tissue; liver dysfunction; malaise; male; nucleotide sequence; pedigree analysis; preschool child; Taiwan; vertical transmission; X linked liver glycogenosis; genetics; glycogen storage disease; infant; liver disease; mutation; X chromosome linked disorder; Genetic Diseases, X-Linked; Glycogen Storage Disease; Humans; Infant; Liver Diseases; Male; Mutation; Phosphorylase Kinase; Taiwan |
Appears in Collections: | 醫學系 |
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