vitamin B12-responsive methylmalonic acidemia
Findings
No curated finding names vitamin B12-responsive methylmalonic acidemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2).
Definition from the Mondo Disease Ontology (MONDO:0017214), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ComaHPOHP:0001259
- Very frequent (80% to 99% of cases)
- DehydrationHPOHP:0001944
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- LethargyHPOHP:0001254
- Very frequent (80% to 99% of cases)
- Nausea and vomitingHPOHP:0002017
- Very frequent (80% to 99% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HyperammonemiaHPOHP:0001987
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
Show the remaining 1
- Renal insufficiencyHPOHP:0000083
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: vitamin B12-responsive methylmalonic acidemia
- Also called
- adenosylcobalamin deficiencyvitamin B12-responsive methylmalonic aciduria