Case#: Subject number 5, female, 17 years (report)

DiseaseAssertion: Pompe disease

FamilyInfo: No known family member with PD

CasePresentingHPOs: HP:0002153 (hyperkalemia), HP:0001324 (muscle weakness), HP:0003546 (Exercise intolerance)

CaseHPOFreeText: Biopsy

CaseNotHPOs: HP:0001638 (cardiomyopathy), HP:0001252 (Hypotonia), HP:0003326 (Myalgia), HP:0002015 (dysphagia), HP:0002098 (respiratory distress), HP:0002094 (dyspnoea)

CaseNotHPOFreeText: not asymptomatic

CasePreviousTesting: "Enzymatic activity was detected by fluorometric techniques" "The GAA sequence was performed in all patients whose enzyme activity measured in DBS and lymphocytes was decreased."

glucosidase activity: GAA activity was 0.37 mol/Lh in dried blood spots (normal range >0.75).

Variant 1: NM_000152.5(GAA):c.1328A>T (p.Asp443Val)

Variant 1 ClinVarID: N/A

Variant 1 CAid: CA401366199

Variant 2: NM_000152.5(GAA):c.1328A>T (p.Asp443Val)

Variant 2 ClinVarID: N/A

Variant 2 CAid: CA401366199

Zygosity: homozygous

ParentalGenotype: N/A

PreviouslyPublished: N/A