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Porphyria is a group of diseases that affect the skin and nervous system. With our proficient team of researchers and scientists specializing in porphyria, we drive innovation in diagnostic tools and therapeutic drugs. As your trusted partner, we provide tailored and comprehensive services to meet your specific scientific research needs.

Overview of Porphyria

Porphyria encompasses a cluster of rare genetic disorders that impact the integumentary and nervous systems. These disorders are characterized by the deficient synthesis of heme, a vital constituent of hemoglobin and various enzymes within the body. Porphyria is estimated to occur in approximately 1 out of every 50,000 individuals.

Types and pathogenesis of porphyria.Fig. 1 The heme biosynthetic pathway and associated porphyria disorders. (Bustad, Helene J., et al., 2021)

Pathogenesis of Porphyria

Porphyria is mainly related to genetic factors. Porphyria occurs when specific genetic mutations lead to a deficiency in a specific enzyme involved in heme synthesis.

Table. 1 The pathogenesis of several common porphyria

Porphyria Type Deficient Enzyme Inheritance Prevalence
Acute intermittent porphyria (AIP) Hydroxymethylbilane synthase (HMBS), porphobilinogen deaminase (PBGD) Autosomal dominant 1/10,000-1/20,000
Porphyria cutanea tarda (PCT) Uroporphyrinogen decarboxylase (UROD) Approximately 80% sporadic, 20% autosomal dominant 1/10,000
Variegate porphyria (VP) Protoporphyrinogen oxidase (PPOX) Autosomal dominant 1/300 in South Africa
Erythropoietic protoporphyria (EPP) Ferrochelatase (FECH) Autosomal recessive 1/75,000-1/200,000

Types of Porphyria Therapy

Enzyme Replacement Therapy

Enzyme replacement therapy (ERT) involves using functional enzymes to replace deficient enzymes. For example, in acute intermittent porphyria (AIP), ERT using recombinant enzymes such as human heme or porphobilinogen deaminase (PBGD) can help restore enzyme activity and reduce symptoms during acute attacks.

Gene Therapy

Gene therapy involves introducing a functional copy of a defective gene or modifying an existing gene to restore normal enzyme production. Gene therapy shows promise in preclinical studies of some forms of porphyria, such as erythropoietic protoporphyria (EPP) and acute hepatic porphyria (AHP).

Small Molecule Therapies

Small molecule drugs target specific biochemical pathways involved in porphyria to reduce the production of toxic porphyrin intermediates or enhance the elimination of these compounds. For example, ALAS1 inhibitors can reduce the overproduction of porphyrins and alleviate symptoms in AIP and VP.

Our Services

Our company leads the way in rare disease research and therapeutic development. Our experienced team of scientists and researchers is committed to unraveling the intricacies of porphyria and other rare diseases by creating advanced research platforms. 

Research Platforms of Porphyria

Utilizing cutting-edge technology, we aim to strategize and develop diagnostics for porphyria to promote early identification and accurate diagnosis of the disease. With the establishment of porphyria animal models and comprehensive investigations into disease mechanisms and targets, we possess the capacity to develop therapeutic drugs for porphyria, thereby facilitating safety evaluation and pharmacokinetic studies of drug candidates.

Animal Models of Porphyria

Induced Models
Administration of compounds that disrupt heme synthesis or porphyrin metabolism can induce porphyria-like symptoms in animals. For instance, our researchers administered 3,5-diethoxycarbonyl-1,4-dihydrocolidine (DDC) to mice, leading to liver damage and the accumulation of porphyrins resembling acute hepatic porphyria.
Genetically Engineered Models
Genetic engineering techniques such as gene knockout and transgenic approaches have played an important role in developing animal models of porphyria. By introducing specific porphyria-related mutations into the animal genome, researchers can mimic the genetic defects observed in human individuals.
Optional Models
  • T1/T2 Model
  • PPOXR59W+/− Model
  • Cpox+/W373X Model
  • R167Q+/+ Model
  • UROSP248Q/P248Q Model
  • UROSC73R/C73R Model
  • UROSC73R/V99L Model
  • UROSV99L/V99L Model
  • Fechm1Pas Model
  • BALB/cByJCrlFechm1Pas/m1Pas Model
  • Emi/mPas1 Model
  • Urod Knockout Model
Spontaneous Models
Spontaneous models occur naturally and exhibit characteristics similar to human porphyria without the need for any external manipulation. For instance, a spontaneous porphyria model known as Gunther's disease mouse model carries a mutation in the uroporphyrinogen III synthase (UROS) gene, resulting in the accumulation of uroporphyrin.
Optional Species Mice, Rats, Pigs, Zebrafish, Non-Human Primates (Macaques), Others

Regardless of your current research stage, we offer comprehensive research services tailored to your needs. If you are interested in our services, please don't hesitate to contact us for more information and a detailed quotation regarding the specific services you require.


  • Bustad, Helene J., et al. "Acute intermittent porphyria: an overview of therapy developments and future perspectives focusing on stabilisation of HMBS and proteostasis regulators." International Journal of Molecular Sciences 22.2 (2021): 675.
  • Yasuda, Makiko, and Robert J. Desnick. "Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies." Molecular genetics and metabolism 128.3 (2019): 332-341.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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