Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.
Publication
, Journal Article
Achouitar, S; Goldstein, JL; Mohamed, M; Austin, S; Boyette, K; Blanpain, FM; Rehder, CW; Kishnani, PS; Wortmann, SB; den Heijer, M; Wevers, RA ...
Published in: Mol Genet Metab
December 2011
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.
Duke Scholars
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
December 2011
Volume
104
Issue
4
Start / End Page
691 / 694
Location
United States
Related Subject Headings
- Phosphorylase Kinase
- Phenotype
- Mutation, Missense
- Male
- Infant
- Humans
- Hepatomegaly
- Genetics & Heredity
- Genetic Association Studies
- Founder Effect
Citation
APA
Chicago
ICMJE
MLA
NLM
Achouitar, S., Goldstein, J. L., Mohamed, M., Austin, S., Boyette, K., Blanpain, F. M., … Morava, E. (2011). Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. Mol Genet Metab, 104(4), 691–694. https://doi.org/10.1016/j.ymgme.2011.08.021
Achouitar, Samira, Jennifer L. Goldstein, Miski Mohamed, Stephanie Austin, Keri Boyette, Francoise M. Blanpain, Catherine W. Rehder, et al. “Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.” Mol Genet Metab 104, no. 4 (December 2011): 691–94. https://doi.org/10.1016/j.ymgme.2011.08.021.
Achouitar S, Goldstein JL, Mohamed M, Austin S, Boyette K, Blanpain FM, et al. Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. Mol Genet Metab. 2011 Dec;104(4):691–4.
Achouitar, Samira, et al. “Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.” Mol Genet Metab, vol. 104, no. 4, Dec. 2011, pp. 691–94. Pubmed, doi:10.1016/j.ymgme.2011.08.021.
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. Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. Mol Genet Metab. 2011 Dec;104(4):691–694.
Published In
Mol Genet Metab
DOI
EISSN
1096-7206
Publication Date
December 2011
Volume
104
Issue
4
Start / End Page
691 / 694
Location
United States
Related Subject Headings
- Phosphorylase Kinase
- Phenotype
- Mutation, Missense
- Male
- Infant
- Humans
- Hepatomegaly
- Genetics & Heredity
- Genetic Association Studies
- Founder Effect