Reduced 4-Hydroxyphenylpyruvate dioxygenase activity

Symptom Information:

Symptom ID: HPO:0003637
Synonyms:
Deficient hepatic 4-hydroxyphenylpyruvate dioxygenase [OMIM,du]
4-hydroxyphenylpyruvic acid dioxygenase deficiency (HPD) [OMIM,du]
Quality:
Cross references:
Is a (Direct Parents):
HPO         Abnormality of monocarboxylic acid metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of monocarboxylic acid metabolism(HPO:0010996)
                Reduced 4-Hydroxyphenylpyruvate dioxygenase activity(HPO:0003637)
MedDRA:
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

Hawkinsinuria (Orphanet:2118)
Tyrosinemia type 1 (Orphanet:882)
Tyrosinemia type 3 (Orphanet:69723)