Transient hyperphenylalaninemia

Symptom Information:

Symptom ID: HPO:0008297
Synonyms:
Transient hyperphenylalaninemia occurs on oral loading test with phenylalanine [IBIS,du]
Quality:
Cross references:
Is a (Direct Parents):
HPO         Abnormality of phenylalanine 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 amino acid metabolism(HPO:0004337)
                Abnormality of aromatic amino acid family metabolism(HPO:0004338)
                   Abnormality of phenylalanine metabolism(HPO:0010893)
                      Transient hyperphenylalaninemia(HPO:0008297)
MedDRA:
Database Frequency: 4 / 7739
Resource:

All diseases associated with this symptom:

Autosomal dominant dopa-responsive dystonia (Orphanet:98808)
Dehydratase deficiency (Orphanet:1578)
Dopa-responsive dystonia due to sepiapterin reductase deficiency (Orphanet:70594)
GTP cyclohydrolase I deficiency (Orphanet:2102)