Learn About Tyrosinemia Type 3

What is the definition of Tyrosinemia Type 3?
Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by genetic changes in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.
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What are the alternative names for Tyrosinemia Type 3?
  • Tyrosinemia type 3
  • 4-alpha hydroxyphenylpyruvate dioxygenase deficiency
  • 4-alpha hydroxyphenylpyruvic acid oxidase deficiency
  • 4-hydroxyphenylpyruvate dioxygenase deficiency
  • Tyrosinemia type III
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What are the latest Tyrosinemia Type 3 Clinical Trials?
An Acceptability Study to Evaluate the Adherence, Tolerance and Metabolic Control of Patients With Tyrosinaemia When Using TYR Sphere (a Food for Special Medical Purposes) as Part of Dietary Management.

Summary: 10 participants aged 3 years and over with tyrosinaemia or alkaptonuria will be prescribed Tyr sphere following an assessment of their individual needs by their dietitian. All participants will enter a 4-week evaluation period, assessing adherence and gastrointestinal tolerance. Evaluations of Tyr sphere's palatability are made at the end of the evaluation period. Dried blood spots are taken on da...

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BioTyrosin - Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1 - An International, Multicenter, Epidemiological Protocol

Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Tyrosinemia type 1 from blood (plasma)

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Tyrosinemia Type 3?
Natural Protein Tolerance and Metabolic Control in Patients with Hereditary Tyrosinaemia Type 1.
The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients.
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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain.