50.198 (3.0)9.2DS 4.6heterozygous pathogenic: c.1029C>G; p.Y343*Normal examinationHS 6.1heterozygous PD: c.235G>A; p.A79TCarrierheterozygous PD: c.296C>T; p.T99I
Case#:Patient Sample unique ID 5, 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:Carrier
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 0.198 (9.2) umol/L/h (%DMA) during new born screening through dried blood spot (plasma) and 9.2 pmol/punch/h Confirmatory IDUA enzyme measured at follow-up appointment
CaseUrineGAGs: DS 4.6 g/mol creatinine and HS 6.1 g/mol creatinine (Normal)
CaseERT:No
CaseBMT:No
Variant1:heterozygous pathogenic: c.1029C>G; p.Y343* (Normal examination)
Variant1ClinVarID: 560781
Variant1CAID: CA352049896
Variant2: heterozygous PD: c.235G>A; p.A79T (Carrier)
Variant2ClinVarID:41682
Variant2CAID:CA000358
AdditionalVariants:heterozygous PD: c.296C>T; p.T99I (ClinVarID:53610, CAID:CA326991)
ParentalGenotype:N/A
PreviouslyPublished:N/A