Tyrosinemia type 3

Orpha code: 69723OMIM code: 276710

Definition

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.

Disease data
Classification

Disease

Synonyms
Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency
Tyrozynemia spowodowana niedoborem dioksygenazy 4-hydroksyfenylopirogronianu
Tyrozynemia spowodowana niedoborem HPD
Tyrozynemia spowodowana niedoborem oksydazy kwasu 4-hydroksyfenylopirogronowego
Tyrozynemia typu III
Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency
Tyrosinemia due to HPD deficiency
Tyrosinemia type III
ORPHA code
69723
OMIM code
276710
ICD10 code
E70.2
ICD11 code
-

No additional description.

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