Vitamin B12-responsive methylmalonic acidemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Vitamin B12-responsive methylmalonic aciduria Adenosylcobalamin deficiency |
| Number of Symptoms | 33 |
| OrphanetNr: | 28 |
| OMIM Id: |
251100
251110 277410 |
| ICD-10: |
E71.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 192 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of cobalamin metabolism and transport
-Rare genetic disease Methylmalonic acidemia without homocystinuria -Rare genetic disease Nephropathy secondary to a storage or other metabolic disease -Rare genetic disease -Rare renal disease |
Symptom Information:
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(HPO:0012120) | Methylmalonic aciduria | 20 / 7739 | ||||
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(HPO:0002919) | Ketonuria | 18 / 7739 | ||||
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(HPO:0000083) | Renal insufficiency | Occasional [Orphanet] | 232 / 7739 | |||
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(HPO:0004372) | Reduced consciousness/confusion | Very frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001254) | Lethargy | 104 / 7739 | ||||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001259) | Coma | 65 / 7739 | ||||
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(HPO:0001337) | Tremor | 200 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | Very frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0002017) | Nausea and vomiting | Very frequent [Orphanet] | 134 / 7739 | |||
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(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001903) | Anemia | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0001875) | Neutropenia | 83 / 7739 | ||||
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(HPO:0001873) | Thrombocytopenia | 224 / 7739 | ||||
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(HPO:0001876) | Pancytopenia | 89 / 7739 | ||||
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(HPO:0003210) | Decreased methylmalonyl-CoA mutase activity | 7 / 7739 | ||||
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(HPO:0002154) | Hyperglycinemia | 12 / 7739 | ||||
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(HPO:0001942) | Metabolic acidosis | 81 / 7739 | ||||
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(HPO:0003145) | Decreased adenosylcobalamin | 10 / 7739 | ||||
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(HPO:0001944) | Dehydration | Very frequent [Orphanet] | 59 / 7739 | |||
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(HPO:0001987) | Hyperammonemia | Frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0001946) | Ketosis | 17 / 7739 | ||||
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(HPO:0002912) | Methylmalonic acidemia | 14 / 7739 | ||||
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(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0002098) | Respiratory distress | 75 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0003593) | Infantile onset | 249 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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