loading...| Preferred Name |
Hawkinsinuria |
| ID |
http://www.orpha.net/ORDO/Orphanet_2118 |
| alternative_term |
4-HPPD deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency |
| definition |
A rare 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. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118 |
| has_age_of_onset |
Neonatal Infancy |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
ICD-11:5C50.1Y MeSH:C535845 OMIM:140350 ICD-10:E70.2 UMLS:C2931042 |
| label |
Hawkinsinuria |
| notation |
ORPHA:2118 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_2118 |
| prefLabel |
Hawkinsinuria |
| present_in |
Worldwide AND has_cases/families_value : 5.0 (Family) Worldwide AND has_point_prevalence_range : <1 / 1 000 000 |
| treeView | |
| subClassOf |