Hawkinsinuria (Q60811): Difference between revisions
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Hawkinsinuria é um erro inato do metabolismo da tirosina caracterizado por deficiência de crescimento, acidose metabólica persistente, cabelos finos e esparsos e excreção do metabólito hawkinsin (ácido 2-l-cisteína-S-il-1-4dihidroxiciclohexa-5-en-1-ilacético) na urina. | |||
| description / en | description / en | ||
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. | |||
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. |
