Dimethylglycine dehydrogenase deficiency

Orpha code: 243343OMIM code: 605850

Definition

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.

Disease data
Classification

Disease

Synonyms
DMG dehydrogenase deficiency
Niedobór dehydrogenazy DMG
Niedobór DMGDH
DMGDH deficiency
ORPHA code
243343
OMIM code
605850
ICD10 code
E72.5
ICD11 code
-

No additional description.

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