Document Detail


X-linked liver glycogenosis in a Taiwanese family: transmission from undiagnosed males.
MedLine Citation:
PMID:  19856867     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-lXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the alpha-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.
Authors:
Szu-Ta Chen; Huey-Ling Chen; Yen-Hsuan Ni; Yin-Hsiu Chien; Yung-Ming Jeng; Mei-Hwei Chang; Wuh-Liang Hwu
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatrics and neonatology     Volume:  50     ISSN:  1875-9572     ISO Abbreviation:  -     Publication Date:  2009 Oct 
Date Detail:
Created Date:  2009-10-27     Completed Date:  2009-11-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101484755     Medline TA:  Pediatr Neonatol     Country:  Singapore    
Other Details:
Languages:  eng     Pagination:  230-3     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, National Taiwan University Children's Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
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MeSH Terms
Descriptor/Qualifier:
Genetic Diseases, X-Linked / genetics*
Glycogen Storage Disease / genetics*
Humans
Infant
Liver Diseases / genetics*
Male
Mutation*
Phosphorylase Kinase / genetics*
Taiwan
Chemical
Reg. No./Substance:
EC 2.7.1.19/Phosphorylase Kinase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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