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

Samira Achouitar, Jennifer L. Goldstein, Miski Mohamed, Stephanie Austin, Keri Boyette, Francoise M. Blanpain, Catherine W. Rehder, Priya S. Kishnani, Saskia B. Wortmann, Martin den Heijer, Dirk J. Lefeber, Ron A. Wevers, Deeksha S. Bali, Eva Morava

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)691-694
Number of pages4
JournalMolecular genetics and metabolism
Volume104
Issue number4
DOIs
StatePublished - Dec 1 2011

Keywords

  • Diarrhea
  • Founder effect
  • Glycogen storage disease type IX
  • Hypoglycemia
  • Tube-feeding

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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    Achouitar, S., Goldstein, J. L., Mohamed, M., Austin, S., Boyette, K., Blanpain, F. M., Rehder, C. W., Kishnani, P. S., Wortmann, S. B., den Heijer, M., Lefeber, D. J., Wevers, R. A., Bali, D. S., & Morava, E. (2011). Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. Molecular genetics and metabolism, 104(4), 691-694. https://doi.org/10.1016/j.ymgme.2011.08.021