Tyrosinaemia type 2 (Q39992): Difference between revisions
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A tirosinemia tipo 2 é um erro inato do metabolismo da tirosina caracterizado por hipertirosinemia com manifestações oculocutâneas (vermelhidão ocular, fotofobia, lacrimejamento e dor excessivos, hiperceratose palmoplantar) e, em alguns casos, déficit intelectual. | |||
| description / en | description / en | ||
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterised by hypertyrosinemia with oculocutaneous manifestations (eye redness, photophobia, excessive tearing and pain, palmoplantar hyperkeratosis) and, in some cases, intellectual deficit. | |||
Revision as of 05:37, 13 August 2026
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterised by hypertyrosinemia with oculocutaneous manifestations (eye redness, photophobia, excessive tearing and pain, palmoplantar hyperkeratosis) and, in some cases, intellectual deficit.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C50.12 |
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| English | Tyrosinaemia type 2 |
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterised by hypertyrosinemia with oculocutaneous manifestations (eye redness, photophobia, excessive tearing and pain, palmoplantar hyperkeratosis) and, in some cases, intellectual deficit. |
