- Sep 2022
Case#: Subject number 2, 37 years
DiseaseAssertion: Late Onset Pompe disease
CasePresentingHPOs: HP:0008994 (proximal muscle weakness in lower limbs), HP:0003325 (limb-girdle muscle weakness), HP:0003701 (proximal muscle weakness), HP:0003691 (scapular winging), HP:0002355 (difficulty walking).
CasePreviousTesting: Serum creatin kinase was 7.7 μkat/l
glucosidase activity: Whole uncoagulated blood samples used for leukocyte and DNA isolations.
GAA activity (w/o acarbose) 35 nmol.h.mg–1 (control 37±14).
8 nmol.h.mg–1 (with acarbose) (control 16±6).
Ratio of with/w/o acarbose is 0.24 (control 0.42±0.08).
Variant 1: NM_000152.5(GAA):c.-32-13T>G
Variant 1 ClinVarID: 4027
Variant 1 CAid: CA116606
Variant 2: NM_000152.5(GAA):c.1456G>C
Variant 2 ClinVarID: N/A
Variant 2 CAid: CA401366835
Zygosity: compund heterozygous