MPS II Hunter Syndrome Plasma

About MPS II Hunter Syndrome Plasma

MPS II Hunter Syndrome Plasma for Lysosomal Storage Disease Research

MPS II Hunter Syndrome Plasma is collected from IRB-consented donors with a clinically confirmed diagnosis of mucopolysaccharidosis type II and processed under standardised SOPs. Plasma is an acellular matrix and is intended for soluble-analyte work; cell-based assays should use the PBMC or whole blood product instead.

The IDS Gene Defect and Why Plasma

MPS II is a monogenic, X-linked recessive lysosomal storage disorder caused by pathogenic variants in IDS, which encodes the lysosomal enzyme iduronate-2-sulfatase. It is a genetic enzyme deficiency, not an autoimmune or inflammatory condition.

• Loss of iduronate-2-sulfatase activity blocks a step in glycosaminoglycan catabolism, so partially degraded dermatan sulfate and heparan sulfate accumulate in lysosomes across many tissues
• Undegraded glycosaminoglycans spill into the circulation and urine, which is why circulating GAG and derived-GAG measurement is a standard research readout for this disease
• Because inheritance is X-linked recessive, affected donors are predominantly male; carrier females are typically unaffected or mildly affected
• Presentation spans a broad spectrum, from attenuated somatic disease to severe forms with progressive neurological involvement, and genotype does not fully predict phenotype
• Enzyme replacement therapy is established clinical practice, so anti-drug antibody and treatment-response research is an active area that plasma directly supports
• Plasma allows enzyme activity assays, substrate quantification by mass spectrometry, proteomics, and immunoassay work from a single acellular matrix

Donor Stratification Available

• Attenuated versus severe (neuronopathic) clinical phenotype
• Enzyme replacement therapy status: treatment-naive, currently treated, or previously treated
• Age at diagnosis and current age band, including paediatric where available
• Method of diagnostic confirmation: enzyme activity assay, molecular IDS genotyping, or both
• Documented organ involvement, such as cardiac, respiratory, skeletal, or CNS
• Matched healthy controls available

Product Features

• Research Use Only (RUO)
• Plasma isolated from clinically confirmed MPS II Hunter syndrome donors
• Rigorous donor screening and sample quality checks
• Standardised collection and processing SOPs
• Suitable for acellular downstream applications such as ELISA, mass spectrometry, and enzyme activity assays
• Standard and custom volumes available

De-identified Donor Data

• Age, sex, race, medication, diagnosis method, disease severity/stage
• Genotype information where available
• Optional: comorbidities, lab values, and clinical history

Applications

• Iduronate-2-sulfatase enzyme activity measurement
• Glycosaminoglycan and derived-GAG substrate quantification
• Biomarker discovery and validation in lysosomal storage disease
• Plasma proteomics and metabolomics
• Enzyme replacement therapy response and anti-drug antibody research
• Gene therapy and substrate reduction therapy preclinical support
• Diagnostic and newborn-screening assay development
• Rare disease natural history and reference range studies

Other MPS II Hunter Syndrome Specimen Types

• MPS II Hunter Syndrome Serum
• MPS II Hunter Syndrome Whole Blood
• MPS II Hunter Syndrome PBMC

Compliance and Quality Assurance

• IRB-approved protocols
• Informed donor consent
• Standardized collection and processing SOPs
• HIPAA-compliant donor data handling

Ordering & Customization

Samples are available in both standard and custom volumes to meet your research needs. For pricing, availability, international shipments, or country-specific documentation requirements, please contact us at learnmore@sanguinebio.com to ensure compliance with your local regulations. To browse plasma from other disease states, visit our human plasma page.