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methylmalonate semialdehyde dehydrogenase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

methylmalonate semialdehyde dehydrogenase deficiency

MONDO:0013579

Also known as:developmental delay due to ALDH6A1 deficiencydevelopmental delay due to MMSDH deficiencydevelopmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Overview

GeneticsAutosomal recessive · ALDH6A1 (chr 14)

ResearchLimited published research (1 article)

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: Epicanthus, Tented upper lip vermilion, Retinal pigment epithelial mottling, and Delayed CNS myelination and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Tented upper lip vermilion, High palate, Microcephaly

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.

ALDH6A1 encodes aldehyde dehydrogenase 6 family member A1 (535 aa). Malonate and methylmalonate semialdehyde dehydrogenase involved in the catabolism of valine, thymine, and compounds catabolized by way of beta-alanine, including uracil and cytidine Highest expression in Liver (68.9 TPM) and Brain Cortex (66.1 TPM).

Methylmalonate semialdehyde dehydrogenase deficiency has limited evidence linking it to mutations in the ALDH6A1 gene on chromosome 14.

The ALDH6A1 protein participates in methylmalonate semialdehyde + NAD+ + CoA + H2O = propionyl-CoA + HCO3- + NADH + H+ pathway.

ALDH6A1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for ALDH6A1 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 29 always present 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 methylmalonate semialdehyde dehydrogenase deficiency.

1 publication has been identified in PubMed for methylmalonate semialdehyde dehydrogenase deficiency. Research spans Basic Science / Preclinical (100%).

Recent Publications

Zhao X (2025). [PMID: 41351065](https://pubmed.ncbi.nlm.nih.gov/41351065/). *Cell Mol Biol Lett*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614105

Orphanet

European rare disease database

Orphanet:289307

GARD

Genetic and Rare Diseases Info Center

GARD:17322

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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methylmalonate semialdehyde dehydrogenase deficiency

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

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