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    Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
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    1. ClingenBaseline 23 Oct 2026

      CaseLP2-1: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.54 umol/hr/L, Serum CK at 72 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.424_440del17 (p.Ser142Leufs*29)

      CAID: CA658795228 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.424_440del17

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1840A>G (p.Thr614Ala)

      CAID: CA401369588 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1840A%3EG

      gnomAD: Not in gnomAD

      Variant3: NM_000152.4:c.2647-23delT

      ClinVar: 557403 https://www.ncbi.nlm.nih.gov/clinvar/variation/557403/

      gnomAD: East Asian 2.005e-3, Overall 1.432e-4 http://gnomad.broadinstitute.org/variant/17-78092425-CT-C

      CaseAddInfo: Late Onset Pompe Disease, Nomenclature indicates that Variant 2 and 3 are in cis

      Individual CaseInfo Variant GenotypingMethod CA658795228 CA401369588 ClinVarID:557403 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/