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

Article ID	Journal	Published Year	Pages	File Type
10833869	Molecular Genetics and Metabolism	2011	4 Pages	PDF

Abstract

âº The PHKA2 mutation p.Pro1205Leu is common in Dutch patients; Early diarrhea and growth delay might appear before hepatomegaly. âº Significantly elevated liver transaminase and lactate levels occur frequently. âº Some patients with hypoglycemia require tube feeding. âº Urine tetraglucoside excretion in sensitive for diagnostics and treatment follow-up.

Keywords

Glycogen storage disease type IX PhK founder effect Diarrhea phosphorylase kinase Tube-feeding hypoglycemia

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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

Authors

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,