Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature
| Autor: | Faiqa Imtiaz, Ali M. Alsuheel, Mohammed Banemai, Hadeel Al-Manea, Hamad Al-Zaidan, Buthainah Albash, Mohammed Al-Owain, Rabab Allam |
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| Rok vydání: | 2013 |
| Předmět: |
Glycogen Storage Disease Type IX
Male medicine.medical_specialty Cirrhosis Genotype Phosphorylase Kinase Saudi Arabia medicine.disease_cause Gastroenterology Polymerase Chain Reaction Liver disease Fibrosis Internal medicine Medicine Humans Phosphorylase kinase Mutation business.industry Liver Diseases Infant Disease gene identification medicine.disease Glycogen Storage Disease Phenotype Endocrinology Pediatrics Perinatology and Child Health Female business |
| Zdroj: | European journal of pediatrics. 173(5) |
| ISSN: | 1432-1076 |
| Popis: | Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase. The first two genes are X-linked while the latter two follow an autosomal recessive inheritance. The majority of cases of GSD IX are attributed to defects in PHKA2 which usually cause a mild disease. We report three patients with PHKG2-related GSD IX presenting with significant hepatic involvement, fibrosis, and cirrhosis. Interestingly, the homozygosity mapping resolved a dilemma about an erroneously normal phosphorylase kinase activity in patient 1. The novel mutation found in all the three patients (p.G220E) affects the catalytic subunit of the phosphorylase kinase. Increasing evidence shows that patients with PHKG2 mutations have a severe hepatic phenotype within the heterogeneous GSD IX disorder. Therefore, defect in PHKG2 should be considered in patients with suspected glycogenosis associated with significant liver fibrosis and cirrhosis. |
| Databáze: | OpenAIRE |
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