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  2. www.degruyterbrill.com www.degruyterbrill.com
    The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I:
    1
    1. ClingenBaseline 24 Oct 2026
      a female of Italian descent identified in 2018 (currently 2 years old) is compound heterozygous for two mutations with severe phenotypes (c.46_57del12/p.Y201X)

      Case#: P2 (IDUA-02)

      DiseaseAssertion: MPS1

      FamilyInfo: None provided

      CasePresentingHPOs:No info

      CaseHPOFreeText: No info

      CaseNotHPOs: No info

      CaseNotHPOFreeText: No info

      CaseEnzymeAssay: Newborn screening using dried blood spot by stable isotope dilution flow injection MS/MS %IDUA enzyme activity =0.17 microM/hour

      CaseUrineGAGs: Confirmatory testing using urinary GAGs (heparan [HS] and dermatan sulfate [DS] by LS-MS/MS method: DS=1.79 mg/L, HS=0.77 mg/L

      CaseERT: Started ERT (100 U/kg/Week) withing 15 days of birth

      CaseBMT: No info

      Variant1:c.46_57del12

      Variant1ClinVarID:92643

      Variant1CAID:

      Variant2: p.Y201X

      Variant2ClinVarID:1323100

      Variant2CAID:

      AdditionalVariants:

      ParentalGenotype: No info

      PreviouslyPublishedNot stated

      Gene:IDUA DiseaseEntity:MPS1 ClinVarID:92643 ClinVarID:1323100 inferred_gene_hgnc:3052 inferred_gene_source:ClinVar IDUA variant annotation
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    degruyterbrill.com/document/doi/10.1515/cclm-2020-0064/html
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
    1
    1. ClingenBaseline 22 Oct 2026
      20 mg/kg (N = 16)

      Case20HPOsFreeText: 20 mg/kg GAA treatment, GAA activity at 9 pmol/spot/hr, GAA activity at 18% lower limit of normal

      CaseAddInfo: Late Onset Pompe Disease

      CaseGenotypingMethod: Method not described, only that the diagnosis was "confirmed … based on 2 GAA gene mutations"

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 https://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.2459_2461delCTG (p.Ala820del)

      ClinVar: 456404 https://www.ncbi.nlm.nih.gov/clinvar/variation/456404/

      gnomAD: European (Non-Finnish) 6.492e-5, Overall 3.190e-5 https://gnomad.broadinstitute.org/variant/17-78091524-GGCT-G

      CaseAddInfo:

      CaseInfo Individual Variant GenotypingMethod ClinVarID:4027 ClinVarID:456404 inferred_gene_hgnc:3052 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5571484/