Acute Intermittent Porphyria Plasma

Acute Intermittent Porphyria (AIP) Plasma for Research

Acute Intermittent Porphyria Plasma is collected from donors clinically diagnosed with acute intermittent porphyria and processed within hours of collection to preserve key analytes such as metabolic intermediates, proteins, and metabolites. This human plasma supports biomarker discovery and mechanistic research into heme biosynthesis and the neurovisceral pathophysiology of AIP.

About Acute Intermittent Porphyria

AIP is an inherited metabolic disorder of heme biosynthesis, not an inflammatory or autoimmune disease. It results from deficiency of hydroxymethylbilane synthase (HMBS, also called porphobilinogen deaminase), the third enzyme in the pathway. When hepatic heme demand rises, the rate-limiting enzyme ALAS1 is induced and the partial HMBS block causes accumulation of the upstream porphyrin precursors δ-aminolevulinic acid (ALA) and porphobilinogen (PBG). ALA in particular is implicated in the acute neurovisceral attacks that define the condition — severe abdominal pain, autonomic instability, peripheral neuropathy, hyponatraemia, and neuropsychiatric features.

Attacks are typically provoked rather than spontaneous, and the common triggers matter for study design: CYP-inducing drugs, fasting or carbohydrate restriction, alcohol, infection, and hormonal fluctuation across the menstrual cycle. Most people carrying an HMBS variant remain biochemically latent and never experience an attack, so distinguishing manifest from latent donors is essential.

Donor Stratification Available

• Disease state — manifest (symptomatic) vs latent/asymptomatic HMBS variant carriers
• Attack status — during an acute attack, in remission, or with recurrent attacks
• Biochemical confirmation — urinary PBG and ALA values where tested
• Genetic confirmation — HMBS variant where sequenced
• Treatment status — including donors on hemin or ALAS1-directed therapy
• Matched healthy controls available

Product Features

• Research Use Only (RUO)
• Plasma collected from clinically confirmed acute intermittent porphyria donors
• Processed within one day of collection
• Light-protected handling on request, as porphyrin precursors are photolabile
• IRB-approved protocols and informed consent
• Custom aliquot volumes available upon request

De-identified Donor Data

• Verified acute intermittent porphyria diagnosis
• Demographic data: age, sex assigned at birth, race/ethnicity
• Donor-reported medications, allergies, and comorbidities
• Additional acute intermittent porphyria-specific metadata available

Applications

• ALA and PBG quantification and assay development
• Heme biosynthesis pathway and ALAS1 regulation research
• Biomarker discovery and validation, including attack-prediction markers
• Metabolomics and proteomics studies
• Neurotoxicity mechanism research
• Therapeutic response research, including siRNA and hemin approaches

Other Acute Intermittent Porphyria Specimen Types

Matched material from AIP donors is available as AIP serum, whole blood, and PBMC.

Compliance and Quality Assurance

• IRB-approved and HIPAA-compliant protocols
• Electronic informed consent with 21 CFR Part 11 – compliant e-signatures
• Documentation support available for regulatory review

Ordering and Customization

Acute intermittent porphyria plasma is available in standard and custom volumes. For international orders or documentation requirements, please email learnmore@sanguinebio.com to ensure compatibility with your country’s regulations. For the full specimen range, see our human plasma collection.