Hyperglutaminemia

Symptom Information:

Symptom ID: HPO:0003217
Synonyms:
High plasma glutamine [HPO:0003217]
High plasma glutamine [OMIM:High plasma glutamine]
Increased serum glutamine [OMIM,cm]
Elevated plasma glutamine [IBIS,cm]
Quality:
Cross references:
OMIM: "High plasma glutamine" [OMIM:High plasma glutamine]
Is a (Direct Parents):
HPO         Abnormality of serum amino acid levels
HPO         Abnormality of glutamine 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 glutamine family amino acid metabolism(HPO:0010902)
                   Abnormality of glutamine metabolism(HPO:0010903)
                      Hyperglutaminemia(HPO:0003217)
                Abnormality of serum amino acid levels(HPO:0003112)
                   Hyperglutaminemia(HPO:0003217)
MedDRA:
Database Frequency: 9 / 7739
Resource:

All diseases associated with this symptom:

ASPARAGINE SYNTHETASE (OMIM:108370)
Argininosuccinic aciduria (Orphanet:23)
Carbamoylphosphate synthetase deficiency (Orphanet:147)
Citrullinemia type I (Orphanet:247525)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Hyperammonemia due to N-acetylglutamate synthetase deficiency (Orphanet:927)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (Orphanet:401948)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Ornithine transcarbamylase deficiency (Orphanet:664)