Case#: Infant #12, male.

DiseaseAssertion: MPS-I

FamilyInfo: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CaseEnzymeAssay: 0.95 IDUA enzyme activity (Ref. 5.9–27.8 μmol/g protein/h)

CaseUrineGAGs: DMB/Cre. Ratio - 18.53, DS - 0.09, HS - 0.17, KS - 0.78 GAG quantifications (DMB/Cre ratio) and the normal reference values based on the age groups: <6 mos: <70.68 mg /mmol cre.; 6 mos–2 yrs: <46.80 mg /mmol cre.; 2–17 yrs: <20.98 mg /mmol cre.; and >18 yrs: <12.62 mg /mmol cre. Quantitative analyses of GAG-derived disaccharides (DS, S, or KS) by tandem mass spectrometry assay. The normal cut-off values: DS < 0.80 μg/mL; HS < 0.78 μg/mL; and KS < 7.90 μg/mL.

CaseERT: N/A

CaseBMT: N/A

Variant1: c.1093C>G (p.L365V)

Variant1ClinVarID: 728422

Variant1CAID: CA2802186

Variant2: c.1463G>C (p.R488P)

Variant2ClinVarID: N/A

Variant2CAID: CA355964644

AdditionalVariants: c.1828+5G>A, ClinVarID: 928996, CAID: CA2802421

ParentalGenotype: N/A

PreviouslyPublished N/A