Acute Intermittent Porphyria Serum

About Acute Intermittent Porphyria Serum

Human Acute Intermittent Porphyria Serum for Genetic Metabolic Disease Research

Our Acute Intermittent Porphyria (AIP) Serum is sourced from IRB-consented donors clinically diagnosed with acute intermittent porphyria. Each sample is processed and frozen within 24 hours of collection to ensure consistency and high quality. Aliquot volumes are configured per project and reported per lot. This serum supports research into the systemic and organ consequences of a defined inherited defect in haem biosynthesis, and into biomarkers of attack risk and chronic disease.

Why Serum for Acute Intermittent Porphyria Research

AIP is a monogenic disorder, not an autoimmune or inflammatory one. It is caused by an inherited, typically autosomal dominant deficiency of hydroxymethylbilane synthase (HMBS, also known as porphobilinogen deaminase), the third enzyme of the haem biosynthetic pathway. Understanding what serum can and cannot tell you about that defect is essential to designing a usable study.

• Partial HMBS deficiency creates a bottleneck in haem synthesis. When hepatic ALAS1, the pathway’s rate-limiting enzyme, is induced — by certain drugs, fasting, alcohol, or hormonal fluctuation — the upstream precursors 5-aminolevulinic acid and porphobilinogen accumulate and are associated with acute neurovisceral attacks.
• Attacks present as severe abdominal pain with autonomic features, hyponatraemia, and peripheral or neuropsychiatric involvement. Serum is the matrix in which the electrolyte and organ-function consequences, including sodium and liver and renal function markers, are measured.
• Diagnostic quantification of porphobilinogen and 5-aminolevulinic acid is conventionally performed on urine, and erythrocyte HMBS enzyme activity is measured in whole blood. Serum is therefore best used for the systemic proteomic, metabolomic, and organ-injury dimensions of the disease rather than as a substitute for those assays.
• AIP is a hepatic porphyria and is not photosensitive, unlike the cutaneous porphyrias — a distinction that follows directly from which enzyme is deficient and which intermediates accumulate.
• Penetrance is low: many carriers of a pathogenic HMBS variant never experience an attack, so cohorts spanning recurrent-attack, remission, and latent carrier states are what make genotype-to-phenotype research possible.
• Current therapy acts on this pathway directly — intravenous hemin suppresses hepatic ALAS1 induction, and an approved RNA interference agent targets ALAS1 transcript — so treated and untreated donor serum supports pharmacodynamic and long-term safety research.

Donor Stratification Available

• Clinical state: recurrent acute attacks, symptomatic but in remission, or asymptomatic (latent) variant carrier
• Attack frequency and time since most recent attack where documented
• HMBS genotype or documented pathogenic variant, where available
• Treatment status: intravenous hemin, ALAS1-directed RNA interference therapy, prophylactic regimens, or untreated
• Chronic complications where recorded, including peripheral neuropathy, renal impairment, and hepatic involvement
• Sex assigned at birth and reproductive or hormonal status, given the marked female predominance and cyclical pattern of attacks
• Matched healthy controls available, and unaffected family members where consented

Product Features

• Collected from clinically confirmed acute intermittent porphyria donors
• Research Use Only (RUO)
• Processed and frozen within 24 hours of collection
• IRB-approved protocols with documented consent
• Custom aliquot volumes available upon request
• Volumes and lot-specific processing details reported per lot

De-identified Donor Data

• Diagnosis confirmation
• Age, sex assigned at birth, and ethnicity
• Donor-reported medical history and comorbidities
• Attack history, treatment history, and genotype available on request where documented

Applications

• Biomarker discovery for attack risk, attack severity, and chronic disease progression in AIP
• Serum proteomic and metabolomic characterisation of a rare inherited metabolic disorder
• Liver and renal injury marker research in a chronically affected population
• Pharmacodynamic and treatment-response studies for haem and ALAS1-directed therapies
• Assay development and validation for rare disease diagnostics requiring authentic patient matrix
• Genotype-to-phenotype research across symptomatic and latent carrier cohorts
• Natural history cohort characterisation for rare disease drug development
• Control and comparator material for other porphyrias and inherited metabolic diseases

Other Acute Intermittent Porphyria Specimen Types

• Acute Intermittent Porphyria Plasma
• Acute Intermittent Porphyria Whole Blood
• Acute Intermittent Porphyria 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 & Customization

Acute intermittent porphyria serum is available in standard and custom volumes. Because AIP is a rare disease, availability is limited and lead times vary. For pricing, availability, international orders, or documentation requirements, please email learnmore@sanguinebio.com to ensure compatibility with your country’s regulations. To browse other disease states and collection formats, visit our human serum page.