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tyrosinemia type III - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tyrosinemia type III

MONDO:0010162

Also known as:tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiencytyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiencytyrosinemia due to HPD deficiency

Find Clinical TrialsTrials

Overview

Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.

GeneticsAutosomal recessive · HPD (chr 12)

Clinical Trials3 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Data assembled from 8 of 12 sources · Last updated Sep 17, 2026, 11:19 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:276710

Orphanet

European rare disease database

Orphanet:69723

GARD

Genetic and Rare Diseases Info Center

GARD:10332

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 3 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Features include always present findings: Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria, and 4-hydroxyphenylacetic aciduria; and common findings: Global developmental delay. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Mild intellectual disability, Seizure, Global developmental delay
Digestive system	1	Elevated circulating hepatic transaminase concentration
Lab test results	1	Elevated circulating hepatic transaminase concentration

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Pipeline includes 1 NA. Research is sponsored by a mix of industry and academic institutions.

39 publications have been identified in PubMed for tyrosinemia type III. Research spans Case Report / Case Series (23%), Gene Therapy / Novel Therapeutics (23%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	9	23%
New treatment approaches	9	23%
Research summaries	7	18%
Laboratory research	7	18%
Disease patterns and progression	3	8%
Clinical study results	2	5%
Other research	1	3%
Testing and diagnosis research	1	3%

Recent Publications

Scarin R (2026). [PMID: 42117404](https://pubmed.ncbi.nlm.nih.gov/42117404/). *J Med Chem*. [Gene Therapy / Novel Therapeutics]
Wang J (2026). [PMID: 41317403](https://pubmed.ncbi.nlm.nih.gov/41317403/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Gibson JR (2026). [PMID: 41928587](https://pubmed.ncbi.nlm.nih.gov/41928587/). *CRISPR J*. [Gene Therapy / Novel Therapeutics]
Basan H (2026). [PMID: 41711566](https://pubmed.ncbi.nlm.nih.gov/41711566/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Yılmaz-Gümüş E (2026). [PMID: 41956115](https://pubmed.ncbi.nlm.nih.gov/41956115/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Motazedian N (2026). [PMID: 41736130](https://pubmed.ncbi.nlm.nih.gov/41736130/). *Orphanet J Rare Dis*. [Diagnostic / Biomarker]
Yazdani AH (2026). [PMID: 40237876](https://pubmed.ncbi.nlm.nih.gov/40237876/). *Biochem Genet*. [Epidemiology / Natural History]
Adnan M (2026). [PMID: 35201733](https://pubmed.ncbi.nlm.nih.gov/35201733/). *Unknown Journal*. [Review / Meta-Analysis]
Sun Y (2026). [PMID: 41645451](https://pubmed.ncbi.nlm.nih.gov/41645451/). *Protein Cell*. [Gene Therapy / Novel Therapeutics]
Saraceno E (2026). [PMID: 41596311](https://pubmed.ncbi.nlm.nih.gov/41596311/). *Int J Mol Sci*. [Case Report / Case Series]

Kisho

tyrosinemia type III

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Latest News & Developments

Identification and Characterization of Novel Variants of Fumarylacetoacetate Hydrolase (FAH) Gene in Clinically Suspected Patients of Tyrosinemia Type 1: Tertiary Care Centre Study of North India.

tyrosinemia type III

Overview

Clinical Presentation

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Latest News & Developments

Identification and Characterization of Novel Variants of Fumarylacetoacetate Hydrolase (FAH) Gene in Clinically Suspected Patients of Tyrosinemia Type 1: Tertiary Care Centre Study of North India.