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 mutations 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.

What are the alternative names for Tyrosinemia Type 3?

  • Tyrosinemia type III
  • 4-alpha hydroxyphenylpyruvic acid oxidase deficiency
  • 4-alpha hydroxyphenylpyruvate dioxygenase deficiency
  • 4-hydroxyphenylpyruvate dioxygenase deficiency
  • Condition: Hereditary Tyrosinemia Type 1
  • Journal: Nutrients
  • Treatment Used: Natural Protein (NP)
  • Number of Patients: 31
  • Published —
This study assessed natural protein (NP) tolerance and metabolic control in patients with hereditary tyrosinemia type 1 (protein disorder; HTI).
  • Condition: Tyrosinemia Type 1
  • Journal: Nutrients
  • Treatment Used: Phenylalanine Supplements
  • Number of Patients: 11
  • Published —
This study tested the safety and efficacy of using phenylalanine supplements to improve phenylalanine and tyrosine blood concentrations in patients with tyrosinemia type 1.