Decreased methylmalonyl-CoA mutase activity
Symptom Information:
| Symptom ID: | HPO:0003210 | ||
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HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of metabolism/homeostasis(HPO:0001939) Abnormality of Krebs cycle metabolism(HPO:0000816) Decreased methylmalonyl-CoA mutase activity(HPO:0003210) MedDRA: |
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| Database Frequency: | 7 / 7739 | ||
| Resource: |
All diseases associated with this symptom:
| Methylcobalamin deficiency type cblDv1 | (Orphanet:308380) |
| Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
| Methylmalonic acidemia with homocystinuria, type cblD | (Orphanet:79283) |
| Vitamin B12-responsive methylmalonic acidemia | (Orphanet:28) |
| Vitamin B12-responsive methylmalonic acidemia type cblA | (Orphanet:79310) |
| Vitamin B12-responsive methylmalonic acidemia type cblB | (Orphanet:79311) |
| Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | (Orphanet:308442) |