Dimethylglycine dehydrogenase deficiency

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.

Also known as: DMG dehydrogenase deficiency, DMGDH deficiency, dimethylglycine dehydrogenase activity disease, dimethylglycine dehydrogenase deficiency, disorder of dimethylglycine dehydrogenase activity, DMGDHD, Dmgdh deficiency

2 clinical trials for this condition and its sub-types.