Elevated plasma branched chain amino acids

Symptom Information:

Symptom ID: HPO:0008344
Synonyms:
Elevated plasma branched chain amino acids (leucine, isoleucine, valine) [OMIM:Elevated plasma branched chain amino acids (leucine, isoleucine, valine)]
Quality:
Cross references:
OMIM: "Elevated plasma branched chain amino acids (leucine, isoleucine, valine)" [OMIM:Elevated plasma branched chain amino acids (leucine, isoleucine, valine)]
Is a (Direct Parents):
HPO         Abnormality of branched chain family amino acid 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)
                   Elevated plasma branched chain amino acids(HPO:0008344)
MedDRA:
Database Frequency: 5 / 7739
Resource:

All diseases associated with this symptom:

Classic maple syrup urine disease (Orphanet:268145)
Intermittent maple syrup urine disease (Orphanet:268173)
MAPLE SYRUP URINE DISEASE, MILD VARIANT (OMIM:615135)
Pyruvate dehydrogenase E3 deficiency (Orphanet:2394)
Thiamine-responsive maple syrup urine disease (Orphanet:268184)