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Table 3 Mutations found in six Korean patients with GSD type IX

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

Case no. Sex Agea (yrs) PhK in erythrocytesb (μmol/min/gHb) Liver glycogenc Liver biopsy Identified mutation Mutation type Ref.
1 M 2 Not done Not done Not done c.537 + 5G > A Splicing [6]
2 M 6 Not done Not done PAS(+)d c.884G > A (p.Arg295His) Missense [8]
3 M 4 Not done 8.8 % (initial), 22.5 % (f/u) c/w GSD, PAS(+), D-PAS(−) c.3210_3212delGAG (p.Arg1072del) Small deletion [18, 19]
4 M 2 6.57 Not done c/w GSD Exon 8 deletion Gross deletion [13]
5 M 2 Activity below detection level 25.1 % c/w GSD, PAS(+), D-PAS(−) Exons 18–33 deletion Gross deletion This study
6 M 4 Not done Not done c/w GSD, PAS(+), D-PAS(−) Exons 27–33 deletion Gross deletion [6]
  1. c/w compatible with, D-PAS Periodic acid–Schiff diastase stain, f/u follow-up, PAS Periodic acid–Schiff stain, PhK Phosphorylase b kinase, Ref references
  2. aAge at first diagnostic workup due to clinical presentation (all patients presented with hepatomegaly with elevated aspartate aminotransferase and alanine aminotransferase)
  3. bReference range of the laboratory was 100.0–250.0 μmol/min/gHb
  4. cReference range of the laboratory was 1–6 %/g wet liver weight
  5. dOnly limited information available on results of liver biopsy performed at outside hospital