tyrosinemia type III
Findings
No curated finding names tyrosinemia type III yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0010162), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 4-hydroxyphenylacetic aciduriaHPOHP:0003607
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- 4-Hydroxyphenylpyruvic aciduriaHPOHP:0003161
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- HypertyrosinemiaHPO · MondoHP:0003231
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activityHPOHP:0003637
- Obligate (100% of cases)
- Elevated urine hydroxyphenyllactic acid levelHPOHP:6001004
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
Show the remaining 9
- Autistic behaviorHPOHP:0000729
- Occasional (5% to 29% of cases)
- Elevated urine N-acetyltyrosine levelHPOHP:6000479
- Occasional (5% to 29% of cases)
- Keratoconjunctivitis siccaHPOHP:0001097
- Occasional (5% to 29% of cases)
- PhotophobiaHPOHP:0000613
- Occasional (5% to 29% of cases)
- Specific learning disabilityHPOHP:0001328
- Occasional (5% to 29% of cases)
- TremorHPOHP:0001337
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HPDHGNC:5147
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: tyrosinemia type III
- Also called
- tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiencytyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiencytyrosinemia due to HPD deficiency