Novel mutations in PHKA2 gene in glycogen storage disease type IX patients from Hong Kong, China.
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.
School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong, China.
Chi-Kong
CK
Lau
Joannie
J
Hui
Fion N Y
FN
Fong
Ka-Fai
KF
To
Tai-Fai
TF
Fok
Nelson L S
NL
Tang
Stephen K W
SK
Tsui
D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D023061:Gene Order; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000235:genetics*; D006723:Hong Kong; D006801:Humans; D008099:Liver / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D009154:Mutation; D010764:Phosphorylase Kinase / Q000235:genetics*; D014463:Ultrasonography
D010764:Phosphorylase Kinase