X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males
Journal
Pediatrics and Neonatology
Journal Volume
50
Journal Issue
5
Pages
230-233
Date Issued
2009
Author(s)
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.
SDGs
Other Subjects
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
Type
journal article