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vitamin B12-responsive methylmalonic acidemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

vitamin B12-responsive methylmalonic acidemia

MONDO:0017214

Also known as:adenosylcobalamin deficiencyvitamin B12-responsive methylmalonic aciduria

Overview

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).

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Lethargy, Coma, Failure to thrive, and Dehydration and others; and common findings: Intellectual disability, Low muscle tone (hypotonia), Global developmental delay, and Hyperammonemia. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Intellectual disability, Global developmental delay

Prognosis

Phenotype severity distribution: 7 very common features, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for vitamin B12-responsive methylmalonic acidemia.

3 publications have been identified in PubMed for vitamin B12-responsive methylmalonic acidemia. Research spans Epidemiology / Natural History (67%) and Case Report / Case Series (33%).

Recent Publications

Ling IC (2025). [PMID: 40234872](https://pubmed.ncbi.nlm.nih.gov/40234872/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Fathi M (2025). [PMID: 40355523](https://pubmed.ncbi.nlm.nih.gov/40355523/). *Sci Rep*. [Epidemiology / Natural History]
Demaret T (2024). [PMID: 38387306](https://pubmed.ncbi.nlm.nih.gov/38387306/). *Molecular genetics and metabolism*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:28

GARD

Genetic and Rare Diseases Info Center

GARD:12623

Questions for Your Care Team

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vitamin B12-responsive methylmalonic acidemia

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

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Questions for Your Care Team

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