Annals of Clinical & Laboratory Science 2011-04-01

A novel PHKA2 gross deletion mutation in a Korean patient with X-linked liver glycogenosis type I.

Kyoung-Jin Park, Hyung-Doo Park, Soo-Youn Lee, Chang-Seok Ki, Yon-Ho Choe

Index: Ann. Clin. Lab. Sci. 41(2) , 197-200, (2011)

Full Text: HTML

Abstract

X-linked liver glycogenosis (XLG) is caused by a mutation in the PHKA2 gene which encodes the alpha subunit of phosphorylase kinase (PHK). Although XLG is not a rare disease, there have been no reports of PHKA2 mutations in Koreans. A 5-year-old boy presented with easy fatigability and hepatomegaly. Liver enzymes were increased and liver histology revealed deposition of glycogen. The PHK activity was markedly decreased compared to control. No amplification was observed at exon 8 of the PHKA2 gene, as a result of the deletion of exon 8. Sequence analysis revealed a hemizygous deletion in the region of exon 8 (c.717+781_864+225del1626). The patient was diagnosed as having XLG I. To the best of our knowledge, this is the first report of XLG I in Koreans.

Related Compounds

  • Phosphorylase Kin...

Related Articles:

CP12 residues involved in the formation and regulation of the glyceraldehyde-3-phosphate dehydrogenase-CP12-phosphoribulokinase complex in Chlamydomonas reinhardtii.

2012-11-01

[Mol. Biosyst. 8(11) , 2994-3002, (2012)]

Physicochemical changes in phosphorylase kinase induced by its cationic activator Mg(2+).

2013-04-01

[Protein Sci. 22(4) , 444-54, (2013)]

Glutathionylation in the photosynthetic model organism Chlamydomonas reinhardtii: a proteomic survey.

2012-02-01

[Mol. Cell. Proteomics 11(2) , M111.014142, (2012)]

Kinetics, in silico docking, molecular dynamics, and MM-GBSA binding studies on prototype indirubins, KT5720, and staurosporine as phosphorylase kinase ATP-binding site inhibitors: the role of water molecules examined.

2011-03-01

[Proteins 79(3) , 703-19, (2011)]

Flywheel resistance exercise to maintain muscle oxidative potential during unloading.

2014-07-01

[Aviat. Space. Environ. Med. 85(7) , 694-9, (2014)]

More Articles...