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    Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
    1
    1. ClingenBaseline 21 Oct 2026

      CaseIP-2: Male, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.43, MS/MS ennzyme activity at 0.13

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant in literature as c.1396C>T, however the reference has G there. Corrected for poossible typo.

      Variant1: NM_000152.4:c.1396G>T (p.Val466Phe)

      CAID: CA401366509 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1396G%3ET

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod CA401366509 ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/