Tyrosinaemia type 3 (Q65820): Difference between revisions
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Revision as of 13:37, 14 August 2026
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 and a highly variable clinical picture ranging from asymptomatic patients to patients with neurologic manifestations including intellectual deficit and ataxia. It is the least frequent form of tyrosinemia.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_745316952 |
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| English | Tyrosinaemia type 3 |
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 and a highly variable clinical picture ranging from asymptomatic patients to patients with neurologic manifestations including intellectual deficit and ataxia. It is the least frequent form of tyrosinemia. |
