Dimethylglycine dehydrogenase deficiency
MeSH: C565278ORPHA: 243343
Overview
Dimethylglycine dehydrogenase deficiency is 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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Dimethylglycine dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.
Abnormality of metabolism/homeostasisElevated circulating creatine kinase concentrationIncreased muscle fatiguabilityAbnormal circulating enzyme concentration or activityFish odor
Classification & Codes
MeSH Code
C565278Orphanet Code
ORPHA:243343Dimethylglycine dehydrogenase deficiency
| MeSH | C565278 |
| Orphanet | ORPHA:243343 |
| Treatments | 0 drug(s) |
| Symptoms on record | 5 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO