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 | |
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] |