Committed to expanding the frontiers of porphyria diagnostics, Protheragen is a leader in the development of customized IVD solutions. With the innovation of automated diagnostic devices and pioneering genetic and metabolic biomarker detection reagents/kits, we are making efforts to revolutionize the detection and management of porphyria by facing the complexities and diagnostic challenges involved with its pathology.
Overview of Porphyria
Porphyrias represent a collection of rare metabolic disorders arising from disruptions in the heme biosynthesis pathway. The production of heme which is vital in the formation of haemoglobin, myoglobin, and multiple enzymes requires numerous enzymatic steps. In porphyric disorders, the absence or inefficiency of these enzymes results in the build-up of porphyrins and their precursors, which is known to cause a multitude of symptoms such as neurological, cutaneous, and systemic manifestations.
Fig. 1 Classification and main features of porphyrias. (Belosevic, Adrian, et al., 2023)
Diagnostic Biomarkers for Porphyria
Accurate diagnosis of porphyria is contingent upon recognizing certain biomarkers such as porphyrin or its precursors and other metabolites related to certain enzyme deficiencies during the heme biosynthesis stage. Depending on the type of porphyria, some of these markers can be traced in the blood, urine or stool excretions. A table listing the principal diagnostic markers of each type of porphyria follows:
| Disease Types |
Disease Name |
Biomarkers |
| Acute Porphyrias |
Acute Intermittent Porphyria (AIP) |
- Elevated porphobilinogen (PBG) in urine (primary marker).
- Increased aminolevulinic acid (ALA) in urine.
- Normal or slightly elevated fecal and plasma porphyrins.
|
| Variegate Porphyria (VP) |
- Elevated PBG and ALA in urine during acute attacks.
- Increased protoporphyrin in plasma.
- Elevated coproporphyrin III in stool.
|
| Hereditary Coproporphyria (HCP) |
- Elevated PBG and ALA in urine during acute attacks.
- Increased coproporphyrin III in urine and stool.
|
| ALA Dehydratase Deficiency Porphyria (ADP) |
- Elevated ALA in urine (primary marker).
- Normal or slightly elevated PBG in urine.
- Increased coproporphyrin III in urine.
|
| Cutaneous Porphyrias |
Porphyria Cutanea Tarda (PCT) |
- Elevated uroporphyrin and heptacarboxyl porphyrin in urine.
- Increased isocoproporphyrin in stool.
- Elevated plasma porphyrins.
|
| Erythropoietic Protoporphyria (EPP) |
- Elevated uroporphyrin and heptacarboxyl porphyrin in urine.
- Increased isocoproporphyrin in stool.
- Elevated plasma porphyrins.
|
| Congenital Erythropoietic Porphyria (CEP) |
- Elevated uroporphyrin I and coproporphyrin I in urine, plasma, and stool.
|
IVD Development for Porphyria
The innovation of in vitro diagnostic (IVD) is highly important in making a diagnosis and managing the therapeutics of porphyria. The sophisticated IVD tools developed for the diagnosis and management of porphyria have profound consequences at the individual level, the societal level, and for the entire health care system. The focus of IVDs development for porphyria is to create specific detection kits.
Metabolite Detection Kit
Metabolite detection kits are designed for determining precise levels of certain porphyrins and their precursors in biological samples, such as urine, blood, or stool specimens. Sophisticated analytical methods such as high-performance liquid chromatography (HPLC), gas chromatography-mass spectrometry (GC-MS), and fluorescence spectroscopy are employed to provide accurate and sensitive results of measurements.
Gene Detection Kit
Gene detection kits focus on identifying mutations in genes associated with porphyria, such as HMBS (for acute intermittent porphyria), PPOX (for variegate porphyria) and CPOX (for hereditary coproporphyria). These kits use next-generation sequencing (NGS), Sanger sequencing, or microarray-based technologies to detect pathogenic variants.
Point-of-Care Testing (POCT) Kit
POCT kits are designed for rapid, on-site detection of porphyria biomarkers, making them ideal for clinical settings, emergency rooms, or remote areas. These kits typically use lateral flow assays, biosensors, or microfluidic devices to detect key metabolites like PBG or ALA in urine or blood.
Our Services
To fill the critical gap in in vitro diagnostic (IVD) for porphyria, Protheragen is committed to developing a series of cutting-edge kits, including metabolite detection kits, gene detection kits, and point-of-care testing (POCT) kits, to accurately identify this rare metabolic disease. These kits are used in conjunction with our IVD equipment to maximize detection sensitivity, specificity and stability.
Featured IVD Kit Development Services
- Aminolevulinic Acid (ALA) Detection Kit
- Porphobilinogen (PBG) Detection Kit
- Uroporphyrin Detection Kit
- Coproporphyrin Detection Kit
- Protoporphyrin Detection Kit
- HMBS Gene Detection Kit
- PPOX Gene Detection Kit
- CPOX Gene Detection Kit
- UROD Gene Detection Kit
- FECH Gene Detection Kit
- Porphobilinogen Deaminase Activity Detection Kit
- Uroporphyrinogen Decarboxylase Activity Detection Kit
- Ferrochelatase Activity Detection Kit
- Urine PBG Rapid Test Kit
- Plasma Porphyrin Fluorescence POCT Kit
- More
IVD Product Development Services
Protheragen also provides point-of-care testing (POCT) and companion diagnostics development services for porphyria. These services help you design portable and user-friendly IVD tools to facilitate rapid identification and personalized therapies of porphyria. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Belosevic, Adrian, et al. "First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria." Life 13.9 (2023): 1889.
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only and cannot be used to diagnose, treat or manage patients.
