630.175 (2.1)7.7DS 7.4heterozygous pathogenic: c.1205G>A; p.W402*Normal examinationHS 5.8heterozygous VUS: c.1417A>T; p.T473SCarrierheterozygous PD: c.246C>G; p.H82Q
Case#:Patient Sample unique ID 63, 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 0.175 (2.1) umol/L/h (%DMA) during new born screening through dried blood spot (plasma) and 7.7 pmol/punch/h Confirmatory IDUA enzyme measured at follow-up appointment
CaseUrineGAGs: DS 7.4 g/mol creatinine and HS 5.8 g/mol creatinine (Normal)
CaseERT:No
CaseBMT:No
Variant1:heterozygous pathogenic: c.1205G>A; p.W402** (Normal examination)
Variant1ClinVarID:11908
Variant1CAID:CA220498
Variant2:heterozygous VUS: c.1417A>T; p.T473S (Carrier)
Variant2ClinVarID:2450304
Variant2CAID:CA346704036
AdditionalVariants:heterozygous PD: c.246C>G; p.H82Q (ClinVarID: 92637, CAID:CA220506)
ParentalGenotype:N/A
PreviouslyPublished:N/A