Glutaric acidemia

Symptom Information:

Symptom ID: HPO:0003530
Synonyms:
Acidaemia [HPO:0003530]
Glutaric acidemia [OMIM:Glutaric acidemia]
Quality:
Cross references:
OMIM: "Glutaric acidemia" [OMIM:Glutaric acidemia]
UMLS:C0268030 "Acidaemia" [HPO:0003530]
Is a (Direct Parents):
HPO         Acidosis
HPO         Abnormality of dicarboxylic acid metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of acid-base homeostasis(HPO:0004360)
             Acidosis(HPO:0001941)
                Glutaric acidemia(HPO:0003530)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of dicarboxylic acid metabolism(HPO:0010995)
                Glutaric acidemia(HPO:0003530)
MedDRA:
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

Glutaryl-CoA dehydrogenase deficiency (Orphanet:25)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)