Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

homocystinuria without methylmalonic aciduria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

homocystinuria without methylmalonic aciduria

MONDO:0018964

Also known as:functional methionine synthase deficiencymethylcobalamin deficiency

Find Clinical TrialsTrials

Overview

Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1).

Clinical Trials1 registered

Diagnosis

Biomarker and diagnostic research for homocystinuria without methylmalonic aciduria has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

43 publications have been identified in PubMed for homocystinuria without methylmalonic aciduria. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (23%).

Research Type	Count	% of Total
Patient case studies	14	33%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:622

GARD

Genetic and Rare Diseases Info Center

GARD:16537

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

homocystinuria without methylmalonic aciduria

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications