DMGDH

DMGDH is an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum.

Dimethylglycine Dehydrogenase

Catalyzes the demethylation of N,N-dimethylglycine to sarcosine. Also has activity with sarcosine in vitro.

Amino-acid betaine catabolic process Source: UniProtKB-UniPathway
Choline catabolic process Source: UniProtKB
Choline metabolic process Source: UniProtKB

Mitochondrion

DMGDH deficiency (DMGDHD):
Disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine.