Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China

Chi-Kong Lau; Joannie Hui; Fion N Y Fong; Ka-Fai To; Tai-Fai Fok; Nelson L S Tang; Stephen K W Tsui

doi:10.1016/j.ymgme.2010.11.004

Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China

Mol Genet Metab. 2011 Feb;102(2):222-5. doi: 10.1016/j.ymgme.2010.11.004. Epub 2010 Nov 23.

Authors

Chi-Kong Lau¹, Joannie Hui, Fion N Y Fong, Ka-Fai To, Tai-Fai Fok, Nelson L S Tang, Stephen K W Tsui

Affiliation

¹ School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong, China.

PMID: 21131218
DOI: 10.1016/j.ymgme.2010.11.004

Abstract

The diagnosis of glycogen storage disease (GSD) type IX is often complicated by the complexity of the phosphorylase kinase enzyme (PHK), and molecular analysis is the preferred way to provide definitive diagnosis. Here we reported two novel mutations found in two GSD type IX patients with different residual enzyme activities from Hong Kong, China using genetic analysis and, provided the molecular interpretation of the deficient PHK activity. These two newly described mutations would be useful for the study of future GSD patients.

Publication types

Case Reports

MeSH terms

Amino Acid Sequence
Base Sequence
Child
Child, Preschool
Gene Order
Glycogen Storage Disease / enzymology
Glycogen Storage Disease / genetics*
Hong Kong
Humans
Liver / diagnostic imaging
Liver / pathology
Male
Mutation*
Phosphorylase Kinase / genetics*
Ultrasonography

Substances

Phosphorylase Kinase