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dimethylglycine dehydrogenase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dimethylglycine dehydrogenase deficiency

MONDO:0011610

Also known as:DMG dehydrogenase deficiencyDMGDH deficiencydimethylglycine dehydrogenase activity disease

Overview

An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder.

GeneticsAutosomal recessive · DMGDH (chr 5)

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: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated circulating N,N-dimethylglycine concentration, Increased muscle fatiguability, and Elevated urinary N,N-dimethylglycine level and 1 more.

Organ System	Phenotype Count	Example Features
Lab test results	2	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated circulating N,N-dimethylglycine concentration

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.

DMGDH encodes dimethylglycine dehydrogenase (866 aa). Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro Highest expression in Liver (41.2 TPM) and Kidney Medulla (16.5 TPM).

Dimethylglycine dehydrogenase deficiency has limited evidence linking it to mutations in the DMGDH gene on chromosome 5.

The DMGDH protein participates in DMGDH:FAD oxidatively demethylates DMGLY to SARC pathway.

DMGDH is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

Diagnosis

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

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.

No clinical trials have been registered for dimethylglycine dehydrogenase deficiency.

3 publications have been identified in PubMed for dimethylglycine dehydrogenase deficiency. Research spans Basic Science / Preclinical (100%).

Recent Publications

Feng P (2025). [PMID: 41075514](https://pubmed.ncbi.nlm.nih.gov/41075514/). *Phytomedicine : international journal of phytotherapy and phytopharmacology*. [Basic Science / Preclinical]
Boycott C (2025). [PMID: 40888265](https://pubmed.ncbi.nlm.nih.gov/40888265/). *Molecular nutrition & food research*. [Basic Science / Preclinical]
Ergin HK (2025). [PMID: 40992652](https://pubmed.ncbi.nlm.nih.gov/40992652/). *Veterinary journal (London, England : 1997)*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605850

Orphanet

European rare disease database

Orphanet:243343

GARD

Genetic and Rare Diseases Info Center

GARD:17185

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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dimethylglycine dehydrogenase deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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