Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

Journal Article (Journal Article)

We found that the missense mutation p.Pro1205Leu in the PHKA2 gene is a common cause of hepatic phosphorylase-kinase deficiency in Dutch patients, suggesting a founder-effect. Most patients presented with isolated growth delay and diarrhea, prior to the occurrence of hepatomegaly, delaying diagnosis. Tetraglucoside excretion correlated with disease severity and was used to follow compliance. The clinical presentation and therapeutic requirements in the same mutation carriers were variable, and PhK deficiency necessitated tube-feeding in some children.

Full Text

Duke Authors

Cited Authors

  • Achouitar, S; Goldstein, JL; Mohamed, M; Austin, S; Boyette, K; Blanpain, FM; Rehder, CW; Kishnani, PS; Wortmann, SB; den Heijer, M; Lefeber, DJ; Wevers, RA; Bali, DS; Morava, E

Published Date

  • December 2011

Published In

Volume / Issue

  • 104 / 4

Start / End Page

  • 691 - 694

PubMed ID

  • 21911307

Electronic International Standard Serial Number (EISSN)

  • 1096-7206

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2011.08.021


  • eng

Conference Location

  • United States