730.248 (3.0)9.6DS 3.3heterozygous VUS: c.1744G>A; p.E582KNormal examinationHS 4.9heterozygous PD: c.235G>A; p.A79Theterozygous PD: c.296C>T; p.T99I
Case#:Patient Sample unique ID 73, 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 0.248 (3.0) umol/L/h (%DMA) during new born screening through dried blood spot (plasma) and 9.6 pmol/punch/h Confirmatory IDUA enzyme
CaseUrineGAGs: DS 3.3 g/mol creatinine and HS 4.9 g/mol creatinine (Normal)
CaseERT:No
CaseBMT:No
Variant1:heterozygous VUS: c.1744G>A; p.E582K (Normal examination)
Variant1ClinVarID:538474
Variant1CAID:CA1944440
Variant2:heterozygous PD: c.235G>A; p.A79T
Variant2ClinVarID:41682
Variant2CAID:CA000358
AdditionalVariants:heterozygous PD: c.296C>T; p.T99I (ClinVarID:53610, CAID:CA326991)
ParentalGenotype:None provided
PreviouslyPublished:N/A