Hawkinsinuria (Q60811)
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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 |
||
| 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. |
