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methylmalonic aciduria and/or homocystinuria, cblD type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

methylmalonic aciduria and/or homocystinuria, cblD type

MONDO:0100463

Overview

An autosomal recessive inborn disorder of cobalamin metabolism caused by biallelic variants in MMADHC. Depending on the type and location of variants in MMADHC, patients may present with methylmalonic aciduria, homocystinuria, or both. MMADHC has been reported to result in the cblD complementation group of cobalamin disorders.

Diagnosis

Biomarker and diagnostic research for methylmalonic aciduria and/or homocystinuria, cblD type has been reported in the published literature.

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 methylmalonic aciduria and/or homocystinuria, cblD type.

183 publications have been identified in PubMed for methylmalonic aciduria and/or homocystinuria, cblD type. Research spans Case Report / Case Series (32%), Basic Science / Preclinical (19%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	59	32%

Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 7:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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methylmalonic aciduria and/or homocystinuria, cblD type

Overview

Diagnosis

Research Landscape

Medical References

Subtypes

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Questions for Your Care Team

Questions for Your Care Team

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