Dimethylglycine dehydrogenase deficiency
Dimethylglycine dehydrogenase deficiency
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.
Also known as dimethylglycine dehydrogenase activity disease, dimethylglycine dehydrogenase deficiency, disorder of dimethylglycine dehydrogenase activity, DMG dehydrogenase deficiency, DMGDH deficiency — per MONDO