Abnormality of branched chain family amino acid metabolism
Symptom Information:
| Symptom ID: | HPO:0010892 | ||
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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) MedDRA: |
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| Database Frequency: | 2 / 7739 | ||
| Resource: |
All diseases associated with this symptom:
| Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | (Orphanet:308410) |
| Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |