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Dimethylglycine dehydrogenase deficiency

MONDO:0011610

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, 0 tagged with Dimethylglycine dehydrogenase deficiency itself.

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Sub-types of Dimethylglycine dehydrogenase deficiency

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