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

Molecular genetics and metabolism - 1 Dec 2011

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

Abstract excerpt

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...

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PMID: 21911307
DOI: 10.1016/j.ymgme.2011.08.021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.PMID 21911307Read ↗

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