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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