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Tyrosinemia type 3

ORPHA69723
Synonym(s) Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
Tyrosinemia due to HPD deficiency
Tyrosinemia type III
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • E70.2
OMIM
UMLS
  • C0268623
MeSH -
MedDRA
  • 10069461

Summary

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

It is the least frequent form of tyrosinemia (see this term) with less than 20 cases reported in the literature so far.

The clinical picture is highly variable ranging from asymptomatic in patients identified through neonatal screening program studies to patients with neurologic manifestations including intellectual deficit and ataxia.

Tyrosinemia type 3 is caused by mutations in the HPD gene (12q14-qter) encoding 4-hydroxyphenylpyruvate dioxygenase.

Tyrosinemia type 3 is transmitted as an autosomal recessive trait

Despite the variable clinical picture, patients with tyrosinemia type 3 are recommended to follow a phenylalanine- and tyrosine-restricted diet.


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