Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
Published
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
Pubmed Central ID
- 21911307
Electronic International Standard Serial Number (EISSN)
- 1096-7206
Digital Object Identifier (DOI)
- 10.1016/j.ymgme.2011.08.021
Language
- eng
Conference Location
- United States