Patient4: Male, 2mo at diagnosis, 2.5mo at ERT

CasePresentingHPOs:

HPOsFreeText: classic IOPD, poor response to ERT, Pompe muscle pathology score = 4.1, Glycogen = 40.3 Vv(PAS + /mf)%, larger empty vacuoles = 52.2 Vv (LEV/mf)%, Autophagic vacuoles = 0 %/mf

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: biopsy taken from  musculus vastus lateralis

CasePMIDs:

CasePreviousTesting: same as group

CaseGenotypingMethod: same as group

Variant1: NM_000152.4(GAA):c.2213G>A (p.Trp738Ter)

ClinVar: 370222, https://www.ncbi.nlm.nih.gov/clinvar/variation/370222/

gnomAD: n/a

Variant2: NM_000152.4:c.delExon18

ClinVar: 4031 https://www.ncbi.nlm.nih.gov/clinvar/variation/4031/

gnomAD: n/a

Case2HPOsFreeText: 5 mg/kg GAA treatment, GAA activity at 6 pmol/punch/hr, GAA activity at 25% lower limit of normal

CaseAddInfo: Late Onset Pompe Disease