Hawkinsinuria (Q60811): Difference between revisions
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13 August 2026
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Latest revision as of 08:18, 14 August 2026
Hawkinsinuria is an inborn error of tyrosine metabolism characterised by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_786595759 |
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| English | Hawkinsinuria |
Hawkinsinuria is an inborn error of tyrosine metabolism characterised by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. |
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CID11:ID_786595759
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dki-india-ID_786595759
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Concluído
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13 August 2026
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