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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/745316952 / rank | |||||||||||||||
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CID11:ID_745316952 | |||||||||||||||
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dki-india-ID_745316952 | |||||||||||||||
| Property / Canary Token: dki-india-ID_745316952 / rank | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest 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. |
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CID11:ID_745316952
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dki-india-ID_745316952
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Concluído
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13 August 2026
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