dimethylglycine dehydrogenase deficiency
Findings
No curated finding names dimethylglycine dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0011610), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- Fish odorHPOHP:0410020
- Very frequent (80% to 99% of cases)
- Increased muscle fatiguabilityHPOHP:0003750
- Very frequent (80% to 99% of cases)
- Elevated circulating N,N-dimethylglycine concentrationHPOHP:0031945
- Elevated urinary N,N-dimethylglycine level
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DMGDHHGNC:24475
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · ClinGen · Autosomal recessive · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
- Narrower terms (1)
Other names
4 names
Resolves to: dimethylglycine dehydrogenase deficiency
- Also called
- dimethylglycine dehydrogenase activity diseasedisorder of dimethylglycine dehydrogenase activityDMG dehydrogenase deficiencyDMGDH deficiency