vitamin B12-unresponsive methylmalonic acidemia type mut0
Findings
No curated finding names vitamin B12-unresponsive methylmalonic acidemia type mut0 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.
Definition from the Mondo Disease Ontology (MONDO:0017360), read 2026-09-29. CC BY 4.0.
Features
22 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)
- Growth delayHPOHP:0001510
- 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)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
- HypotoniaHPO
Show the remaining 10
- ChoreoathetosisHPOHP:0001266
- Occasional (5% to 29% of cases)
- Decreased total neutrophil countHPOHP:0001875
- Occasional (5% to 29% of cases)
- DystoniaHPOHP:0001332
- Occasional (5% to 29% of cases)
- Hemiplegia/hemiparesisHPOHP:0004374
- Occasional (5% to 29% of cases)
- HyperammonemiaHPOHP:0001987
- Occasional (5% to 29% of cases)
- Optic atrophyHPOHP:0000648
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MMUTHGNC:7526
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: vitamin B12-unresponsive methylmalonic acidemia type mut0
- Also called
- complete deficiency of methylmalonyl-CoA mutasevitamin B12-unresponsive methylmalonic aciduria type mut0