Tyrosinaemia type 3 (Q65820): Difference between revisions
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A tirosinemia tipo 3 é um erro inato do metabolismo da tirosina caracterizado por leve hipertirosinemia e aumento da excreção urinária de 4-hidroxifenilpiruvato, 4-hidroxifenilactato e 4-hidroxifenilacetato e um quadro clínico altamente variável, indo de pacientes assintomáticos a pacientes com manifestações neurológicas, incluindo déficit intelectual e ataxia . É a forma menos frequente de tirosinemia. | |||
| description / en | description / en | ||
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. | |||
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. |
