loading...| Preferred Name |
hawkinsinuria |
|
| Synonyms |
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency hawkinsinuria 4-HPPD deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency |
|
| Definitions |
Hawkinsinuria is an inborn error of tyrosine metabolism characterized 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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| ID |
http://purl.obolibrary.org/obo/MONDO_0007700 |
|
| has_exact_synonym |
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency hawkinsinuria 4-HPPD deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency |
|
| IAO_0000233 | ||
| label |
hawkinsinuria |
|
| prefixIRI |
MONDO:0007700 |
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| prefLabel |
hawkinsinuria |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria |
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| textual definition |
Hawkinsinuria is an inborn error of tyrosine metabolism characterized 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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| subClassOf |