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malonic aciduria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

malonic aciduria

MONDO:0009556

Also known as:malonyl-CoA decarboxylase deficiencyMCD deficiencyMalonicaciduria

Overview

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

GeneticsAutosomal recessive · MLYCD (chr 16)

OnsetNEONATAL

ResearchLimited published research (5 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 always present findings: Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts; and very common findings: Intellectual disability. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	5	Diarrhea, Vomiting, Chronic constipation

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MLYCD encodes malonyl-CoA decarboxylase (493 aa). Catalyzes the conversion of malonyl-CoA to acetyl-CoA. Highest expression in Heart Left Ventricle (13.3 TPM) and Muscle Skeletal (11.2 TPM).

Malonic aciduria is caused by mutations in the MLYCD gene on chromosome 16.

MLYCD is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for MLYCD is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 4 common features.

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.

No clinical trials have been registered for malonic aciduria.

5 publications have been identified in PubMed for malonic aciduria. Research spans Case Report / Case Series (60%) and Review / Meta-Analysis (40%).

Recent Publications

Huang XW (2026). [PMID: 41452423](https://pubmed.ncbi.nlm.nih.gov/41452423/). *World J Pediatr*. [Review / Meta-Analysis]
Fonseca-Teixeira M (2026). [PMID: 41750220](https://pubmed.ncbi.nlm.nih.gov/41750220/). *Brain Sci*. [Review / Meta-Analysis]
Gokalp S (2026). [PMID: 42100905](https://pubmed.ncbi.nlm.nih.gov/42100905/). *Clin Dysmorphol*. [Case Report / Case Series]
Ersoy M (2025). [PMID: 40960910](https://pubmed.ncbi.nlm.nih.gov/40960910/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Zhang JM (2024). [PMID: 39069445](https://pubmed.ncbi.nlm.nih.gov/39069445/). *Brain Dev*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:248360

Orphanet

European rare disease database

Orphanet:943

GARD

Genetic and Rare Diseases Info Center

GARD:3371

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

malonic aciduria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Irritable Bowel Disease: Think Malonic and Methylmalonic Aciduria (CMAMMA)!

malonic aciduria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Irritable Bowel Disease: Think Malonic and Methylmalonic Aciduria (CMAMMA)!