Case#: P 2, Female, 4.7 months old when started ERT (113.7 months old at publication date), ethnicity unknown

DiseaseAssertion: Pompe disease

FamilyInfo: Table 1 includes parental genotype

CasePresentingHPOs: HP:0001639 , HP:0001252 , HP:0003701, HP:0002090

(Hypertrophic cardiomyopathy, Muscular hypotonia, Proximal muscle weakness, Pneumonia)

CaseHPOFreeText: Aspiration pneumonia was a complication during ERT.

Patient requires tube feeding.

Patient's best and current motor status is being able to sit.

CaseNotHPOs: N/A

CaseNotHPOFreeText: Patient has not required ventilation

CasePreviousTesting: CRIM status is positive in patient

Antibody titer is 1:1.200

Variant 1: NM_000152.5(GAA):c.1799G>A (p.Arg600His)

ClinVar: 370130

CAID: CA8815482

gnomAD: Highest population MAF= 0.00003267 in South Asians

Variant 2: c.1859G>A

ClinVar: N/A

CAID: N/A

gnomAD: N/A

ParentalGenotype: Mother is the carrier of the c.1799G>A (p.Arg600His) Variant

Father is the carrier of the c.1859G>A variant

PreviouslyPublished: N/A