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Tyrosinemia, Type I (TYRSN1)

Tyrosinemia, Type I (TYRSN1) is a rare genetic disorder that causes a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), build-up of toxic byproducts in the body, and lead to liver and kidney damage. Our company stands at the forefront of rare disease research, leveraging a wealth of experience and expertise to provide valuable insights into the genetic basis of the disease and help you develop innovative approaches and tailored therapeutic regimens.

Introduction to TYRSN1

Tyrosinemia, Type I (TYRSN1) is a rare genetic disorder that manifests through autosomal recessive inheritance. Globally, the incidence of this condition is estimated to be approximately 1 in 120,000 to 1 in 100,000 individuals. Individuals diagnosed with TYRSN1 may experience a range of symptoms and complications, highlighting the diverse nature of the disease. From liver dysfunction to neurological issues, the impact of TYRSN1 on the body is multifaceted and requires a comprehensive approach to diagnosis and therapeutics.

Pathogenesis of TYRSN1

The underlying cause of TYRSN1 lies in mutations of the FAH gene, which is situated on chromosome 15q23. The absence of FAH enzyme activity results in the accumulation of toxic metabolites such as succinylacetone, which can damage tissues and organs, particularly the liver and kidneys. This accumulation interferes with the synthesis and metabolism of porphyrins, affecting cell growth, immune function, and renal tubular transport function. The build-up of toxic byproducts in the body can lead to liver and kidney damage, as well as other serious complications.

Fig.1 The abnormalities in the pathway of tyrosine metabolism in TYRSN1.Fig.1 The abnormalities in the pathway of tyrosine metabolism in TYRSN1. (Xu, X., et al., 2017)

Diagnostics Development of TYRSN1

Diagnosing TYRSN1 requires a comprehensive evaluation of blood tyrosine concentration and succinylacetone levels. Diagnostic approaches such as urine organic acid analysis and gene sequencing are employed to further refine the diagnosis and classify the specific mutation patterns associated with TYRSN1.

Therapeutics of TYRSN1

Small Molecule Drug Therapy

One of the primary methods of addressing TYRSN1 is through small molecule drugs, with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC) emerging as an effective therapeutic option. This drug acts as a potent inhibitor of 4-hydroxyphenylpyruvate dioxygenase (HPD), reducing the formation of harmful metabolites and demonstrating high tolerability.

Gene Therapy

Gene therapy offers a groundbreaking avenue for the therapeutic of TYRSN1. CRISPR-Cas9-mediated gene correction during infancy presents a potential breakthrough in addressing the underlying genetic abnormalities associated with this condition. By targeting and correcting the genetic mutations responsible for TYRSN1, gene therapy holds the promise of transforming the therapeutic landscape for affected individuals.

Our Services

Our company has professionals who utilize advanced technologies and genetic screening tools to provide services including animal models and therapeutic platform development, to help your research in the TYRSN1 diagnostic and therapeutic realm.

Therapy Development Platforms

Animal Models of TYRSN1

Animal models serves as invaluable tools in TYRSN1 research. Chemically induced or genetically engineered animal models offered by our company facilitate insights into TYRSN1-related pathophysiology and liver biology, to help you for groundbreaking advancements in drug development and therapy.

Chemical-induced Models
By introducing a point mutation in the Fah gene using ethylnitrosourea (ENU) mutagenesis, researchers can create mouse models of TYRSN1 to study disease mechanisms and potential therapeutics.
Optional Models
  • ENU model
Genetically Engineered Models
By using gene editing techniques including ZFN, TALEN, and CRISPR/Cas9 to modify the Fah gene in animal models, to recapitulate the phenotype and study the underlying mechanisms of TYRSN1.
Optional Models
  • FahΔexon5 model
  • Fah-/- model
Optional Species Mice, Rats, Others

These models are valuable tools for understanding the pathogenesis of genetic diseases and for testing new therapies. We can provide reliable animal models that can support your research in pharmacokinetics, drug development, and safety evaluation.

If you are interested in our services, please feel free to contact us for more details and quotation information of related services.


  • Neuckermans, Jessie, et al. "Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype." Genes 14(3) (2023): 693.
  • Barone, Helene, et al. "Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis." American journal of medical genetics. Part B, Neuropsychiatric genetics: the official publication of the International Society of Psychiatric Genetics, 183.2 (2020): 95–105.
  • Chinsky, Jeffrey, M, et al. "Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations." Genetics in medicine: official journal of the American College of Medical Genetics, 19.12 (2017).

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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