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

被引：26

作者：

Achouitar, Samira ^{[2
]}

Goldstein, Jennifer L. ^{[1
]}

Mohamed, Miski ^{[1
]}

Austin, Stephanie ^{[2
]}

Boyette, Keri ^{[2
]}

Blanpain, Francoise M. ^{[3
]}

Rehder, Catherine W. ^{[3
]}

Kishnani, Priya S. ^{[2
]}

Wortmann, Saskia B. ^{[1
]}

den Heijer, Martin ^{[4
]}

Lefeber, Dirk J. ^{[5
,6
]}

Wevers, Ron A. ^{[6
]}

Bali, Deeksha S. ^{[1
,2
]}

Morava, Eva ^{[1
]}

机构：

[1] Duke Univ, Div Med Genet, Dept Pediat, Med Ctr, Durham, NC 27510 USA

[2] Radboud Univ Nijmegen, Dept Pediat, Inst Genet & Metab Dis, Med Ctr, Nijmegen, Netherlands

[3] Duke Univ, Dept Pathol, Med Ctr, Durham, NC 27510 USA

[4] Radboud Univ Nijmegen, Dept Endocrinol, Inst Genet & Metab Dis, Med Ctr, Nijmegen, Netherlands

[5] Radboud Univ Nijmegen, Dept Neurol, Inst Genet & Metab Dis, Med Ctr, Nijmegen, Netherlands

[6] Radboud Univ Nijmegen, Lab Genet Metab & Endocrine Dis, Inst Genet & Metab Dis, Med Ctr, Nijmegen, Netherlands

来源：

MOLECULAR GENETICS AND METABOLISM | 2011年 / 104卷 / 04期

关键词：

Hypoglycemia; Tube-feeding; Diarrhea; Founder effect; Glycogen storage disease type IX; CLINICAL PHENOTYPE; ALPHA-SUBUNIT; GLYCOGENOSIS; VARIABILITY;

D O I：

10.1016/j.ymgme.2011.08.021

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. Tetra-glucoside 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. (C) 2011 Elsevier Inc. All rights reserved.

引用

页码：691 / 694

页数：4

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