Elevated plasma branched chain amino acids
Symptom Information:
Symptom ID: | HPO:0008344 | ||
Synonyms: |
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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: |
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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) |