Defective dehydrogenation of isovaleryl CoA and butyryl CoA

Symptom Information:

Symptom ID: HPO:0003490
Synonyms:
Defective dehydrogenation of isovaleryl CoA and butyryl CoA [OMIM:Defective dehydrogenation of isovaleryl CoA and butyryl CoA]
Quality:
Cross references:
OMIM: "Defective dehydrogenation of isovaleryl CoA and butyryl CoA" [OMIM:Defective dehydrogenation of isovaleryl CoA and butyryl CoA]
Is a (Direct Parents):
HPO         Abnormality of fatty-acid metabolism
HPO         Abnormality of leucine 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 branched chain family amino acid metabolism(HPO:0010892)
                   Abnormality of leucine metabolism(HPO:0004357)
                      Defective dehydrogenation of isovaleryl CoA and butyryl CoA(HPO:0003490)
          Abnormality of lipid metabolism(HPO:0003119)
             Abnormality of fatty-acid metabolism(HPO:0004359)
                Defective dehydrogenation of isovaleryl CoA and butyryl CoA(HPO:0003490)
MedDRA:
Database Frequency: 1 / 7739
Resource:

All diseases associated with this symptom:

Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)