Case4: Male, 45 years report, 44 years diagnosis, Germany

CasePresentingHPOs:

HPOsFreeText: 6-min walk test at 510 (m)

CaseNotHPOs: HP:0002878 (Respiratory failure)

NotHPOsFreeText: Not wheelchair bound

CaseAddInfo: 0 years on ERT

CaseOPTPD-78: Male, Taiwan, Birth diagnosis

HPOsFreeText: GAA (MS/MS) enzyme activity at 0.91 umol/hr/L

GenotypingMethod: GAA Gene Sequencing and PCR Amplification

Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

Variant2: NM_000152.4:c.2214G>A (p.Trp738Ter)

ClinVar: 370223 https://www.ncbi.nlm.nih.gov/clinvar/variation/370223/

gnomAD: East Asian 5.437e-5, Overall 3.986e-6 http://gnomad.broadinstitute.org/variant/17-78090791-G-A

CaseAddInfo: One Pompe Mutation allele and Two Pseudodeficency Mutation alleles, Nomenclature indicates patient is homozygous for Variant 1 and Variant 2 is in cis with one copy