Case#: P2 (IDUA-02)

DiseaseAssertion: MPS1

FamilyInfo: None provided

CasePresentingHPOs:No info

CaseHPOFreeText: No info

CaseNotHPOs: No info

CaseNotHPOFreeText: No info

CaseEnzymeAssay: Newborn screening using dried blood spot by stable isotope dilution flow injection MS/MS %IDUA enzyme activity =0.17 microM/hour

CaseUrineGAGs: Confirmatory testing using urinary GAGs (heparan [HS] and dermatan sulfate [DS] by LS-MS/MS method: DS=1.79 mg/L, HS=0.77 mg/L

CaseERT: Started ERT (100 U/kg/Week) withing 15 days of birth

CaseBMT: No info

Variant1:c.46_57del12

Variant1ClinVarID:92643

Variant1CAID:

Variant2: p.Y201X

Variant2ClinVarID:1323100

Variant2CAID:

AdditionalVariants:

ParentalGenotype: No info

PreviouslyPublishedNot stated

Case#: Patient No. 1 (Table 1), White race, male, 1.97 years old (age at time of gene therapy), 75 IQ score. 2.9 years since gene therapy, 2 years since latest visit.

DiseaseAssertion: MPS-IH

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: Yes

Variant1: c.603C>G

Variant1ClinVarID: 1323100

Variant1CAID: CA355961899

Variant2: c.603C>G (p.Y603X)

Variant2ClinVarID: 1323100

Variant2CAID: CA355961899

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished N/A