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    The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening
    2
    1. ClingenBaseline 23 Oct 2026
      520.433 (5.2)6.5DS 3.2heterozygous PD: c.235G>A; p.A79TNormal examinationHS 2.6heterozygous PD: c.667G>A; p.D223N

      Case#:Patient Sample unique ID 52, Infant screened positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      DiseaseAssertion:None

      FamilyInfo:None

      CasePresentingHPOs:None

      CaseHPOFreeText:None

      CaseNotHPOs:None

      CaseNotHPOFreeText: Normal examination at follow up after screening positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      CaseEnzymeAssay: IDUA activity 0.433 (5.2) umol/L/h (%DMA) during new born screening through dried blood spot (plasma) and 6.5 pmol/punch/h Confirmatory IDUA enzyme

      CaseUrineGAGs: DS 3.2 g/mol creatinine and HS 2.6 g/mol creatinine (Normal)

      CaseERT:No

      CaseBMT:No

      Variant1:heterozygous PD: c.235G>A; p.A79T (Normal examination)

      Variant1ClinVarID:41682

      Variant1CAID:CA000358

      Variant2:heterozygous PD: c.667G>A; p.D223N

      Variant2ClinVarID:2220838

      Variant2CAID:CA363422841

      AdditionalVariants: None

      ParentalGenotype:None provided

      PreviouslyPublished:N/A

      ClinVarID:41682 CAID:CA000358 ClinVarID:2220838 CAID:CA363422841 DiseaseEntity:Unknown inferred_gene_hgnc:9588 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 22 Oct 2026
      540.309 (3.7)N/A‡DS 3.4heterozygous PD: c.235G>A; p.A79TNot examined at UNC-CHHS 2.8heterozygous PD: c.296C>T; p.T99Iheterozygous PD: c.667G>A; p.D223N

      Case#:Patient Sample unique ID 54, Infant screened positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      DiseaseAssertion:None

      FamilyInfo:None

      CasePresentingHPOs:None

      CaseHPOFreeText:None

      CaseNotHPOs:None

      CaseNotHPOFreeText: Normal examination at follow up after screening positive at birth (specimens with activity ≤15% of the DMA for enzyme activity and a CLIR screening algorithm result of indeterminate or MPS I)

      CaseEnzymeAssay: IDUA activity 0.309 (3.7) umol/L/h (%DMA) during new born screening through dried blood spot (plasma) and N/A pmol/punch/h Confirmatory IDUA enzyme

      CaseUrineGAGs: DS 3.4 g/mol creatinine and HS 2.8 g/mol creatinine (Normal)

      CaseERT:No

      CaseBMT:No

      Variant1:homozygous PD: c.235G>A; p.A79T (Normal examination)

      Variant1ClinVarID:41682

      Variant1CAID: CA000358

      Variant2: homozygous PD: c.296C>T; p.T99I

      Variant2ClinVarID:53610

      Variant2CAID:CA326991

      AdditionalVariants: heterozygous PD: c.667G>A; p.D223N (ClinVarID: 2220838, CAID: CA363422841)

      ParentalGenotype:None provided

      PreviouslyPublished:N/A

      ClinVarID:41682 CAID:CA000358 ClinVarID:53610 CAID:CA326991 ClinVarID:2220838 CAID:CA363422841 DiseaseEntity:Unknown inferred_gene_hgnc:9588 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347619305098