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

Case#:Patient Sample unique ID 4, 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 at follow up after screening positive at birth

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 0.280 (4.2) umol/L/h (%DMA) through dried blood spot during newborn screening and 2 pmol/punch/h Confirmatory IDUA enzyme measured at follow-up appointment

CaseUrineGAGs: DS 5.7 g/mol creatinine and HS 3.6 g/mol creatinine (Normal)

CaseERT:No

CaseBMT:No

Variant1:heterozygous VUS: c.1582C>G; p.P528A

Variant1ClinVarID:2880182

Variant1CAID:CA398172227

Variant2: heterozygous likely benign: c.240C>G

Variant2ClinVarID: 4549

Variant2CAID: CA253209

AdditionalVariants:homozygous PD: c.235G>A; p.A79T (ClinVarID:41682, CA000358) and homozygous PD: c.296C>T; p.T99I (ClinVarID:53610, CA326991)

ParentalGenotype:N/A

PreviouslyPublished:N/A

second hand quote from History: Professional Scholarship in America<br /> John Higham, 1965