Low plasma citrulline

Symptom Information:

Symptom ID: HPO:0003572
Synonyms:
Low plasma citrulline [OMIM:Low plasma citrulline]
Decreased or absent serum citrulline [IBIS,cm]
Quality:
Cross references:
OMIM: "Low plasma citrulline" [OMIM:Low plasma citrulline]
Is a (Direct Parents):
HPO         Abnormality of citrulline 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 citrulline metabolism(HPO:0011965)
                   Low plasma citrulline(HPO:0003572)
MedDRA:
Database Frequency: 7 / 7739
Resource:

All diseases associated with this symptom:

Carbamoylphosphate synthetase deficiency (Orphanet:147)
Hyperammonemia due to N-acetylglutamate synthetase deficiency (Orphanet:927)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (Orphanet:401948)
Maternally-inherited Leigh syndrome (Orphanet:255210)
NARP syndrome (Orphanet:644)
Ornithine transcarbamylase deficiency (Orphanet:664)
Pearson syndrome (Orphanet:699)