Methylmalonic acidemia
Symptom Information:
| Symptom ID: | HPO:0002912 | ||||
| Synonyms: |
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HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of metabolism/homeostasis(HPO:0001939) Abnormality of vitamin metabolism(HPO:0100508) Abnormality of vitamin B metabolism(HPO:0004340) Abnormality of vitamin B12 metabolism(HPO:0004341) Methylmalonic acidemia(HPO:0002912) Abnormality of carboxylic acid metabolism(HPO:0004354) Abnormality of dicarboxylic acid metabolism(HPO:0010995) Methylmalonic acidemia(HPO:0002912) MedDRA: |
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| Database Frequency: | 14 / 7739 | ||||
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All diseases associated with this symptom:
| Methylcobalamin deficiency type cblDv1 | (Orphanet:308380) |
| Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | (Orphanet:308425) |
| Methylmalonic acidemia with homocystinuria | (Orphanet:26) |
| Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
| Methylmalonic acidemia with homocystinuria, type cblD | (Orphanet:79283) |
| Methylmalonic acidemia with homocystinuria, type cblF | (Orphanet:79284) |
| Methylmalonic acidemia with homocystinuria, type cblJ | (Orphanet:369955) |
| Methylmalonic acidemia with homocystinuria, type cblX | (Orphanet:369962) |
| Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
| 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) |
| Vitamin B12-unresponsive methylmalonic acidemia | (Orphanet:27) |