کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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4175574 | 1276200 | 2009 | 4 صفحه PDF | دانلود رایگان |
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.
Journal: Pediatrics & Neonatology - Volume 50, Issue 5, October 2009, Pages 230-233