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Background  Molecular diagnosis of glycogen storage diseases (GSDs) is important to enable accurate diagnoses and make appropriate therapeutic plans. The aim of this study was to evaluate the  PHKA2  mutation spectrum in Korean patients with GSD type IX.    Methods  Thirteen Korean patients were tested for  PHKA2  mutations using direct sequencing and a multiplex polymerase chain reaction method. A comprehensive review of the literature on previously reported  PHKA2  mutations in other ethnic populations was conducted for comparison.    Results  Among 13 patients tested, six unrelated male patients with GSD IX aged 2 to 6 years at the first diagnostic work-up for hepatomegaly with elevated aspartate transaminase (AST) and alanine transaminase (ALT) were found to have  PHKA2  mutations. These patients had different  PHKA2  mutations: five were known mutations (c.537 + 5G > A, c.884G > A [p.Arg295His], c.3210_3212delGAG [p.Arg1072del], exon 8 deletion, and exons 27–33 deletion) and one was a novel mutation (exons 18–33 deletion). Notably, the most common type of mutation was gross deletion, in contrast to other ethnic populations in which the most common mutation type was sequence variant.    Conclusions  This study expands our knowledge of the  PHKA2  mutation spectrum of GSD IX. Considering the  PHKA2  mutation spectrum in Korean patients with GSD IX, molecular diagnostic methods for deletions should be conducted in conjunction with direct sequence analysis to enable accurate molecular diagnosis of this disease in the Korean population.

PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations