Alkaptonuria (Q39990): Difference between revisions
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A alcaptonúria é caracterizada pelo acúmulo de ácido homogentísico (HGA) e seu produto oxidado ácido benzoquinona acético (BQA), levando ao escurecimento da urina quando deixada exposta ao ar, coloração cinza-azulada da esclera do olho e da hélice da orelha (ocronose), e doença articular incapacitante que envolve as articulações axiais e periféricas (artropatia ocronótica). | |||
| description / en | description / en | ||
Alkaptonuria is characterised by the accumulation of homogentisic acid (HGA) and its oxidised product benzoquinone acetic acid (BQA), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). | |||
Revision as of 05:37, 13 August 2026
Alkaptonuria is characterised by the accumulation of homogentisic acid (HGA) and its oxidised product benzoquinone acetic acid (BQA), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C50.10 |
||
| English | Alkaptonuria |
Alkaptonuria is characterised by the accumulation of homogentisic acid (HGA) and its oxidised product benzoquinone acetic acid (BQA), leading to a darkening of the urine when it is left exposed to air, grey-blue colouration of the eye sclerae and the ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). |
